scholarly journals CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance

2021 ◽  
Vol 9 ◽  
Author(s):  
Han Zhang ◽  
Ye Wu ◽  
Yuwu Jiang
Keyword(s):  
De Novo ◽  
Serum Magnesium ◽  
Brain Magnetic Resonance Imaging ◽  
Functional Studies ◽  
Pathogenic Variants ◽  
Significant Difference ◽  
Domain Variations ◽  
Type 3

CNNM2 (Cystathionine-β-synthase-pair Domain Divalent Metal Cation Transport Mediator 2) pathogenic variants have been reported to cause hypomagnesemia, epilepsy, and intellectual disability/developmental delay (ID/DD). We identified two new cases with CNNM2 novel de novo pathogenic variants, c.814T>C and c.976G>C. They both presented with infantile-onset epilepsy with DD and hypomagnesemia refractory to magnesium supplementation. To date, 21 cases with CNNM2-related disorders have been reported. We combined all 23 cases to analyze the features of CNNM2-related disorders. The phenotypes can be classified into three types: type 1, autosomal dominant (AD) inherited simple hypomagnesemia; type 2, AD inherited hypomagnesemia with epilepsy and ID/DD; and type 3, autosomal recessive (AR) inherited hypomagnesemia with epilepsy and ID/DD. All five type 1 cases had no epilepsy or ID/DD; they all had hypomagnesemia, and three of them presented with symptoms secondary to hypomagnesemia. Fifteen type 2 patients could have ID/DD and seizures, which can be controlled with antiseizure medications (ASMs); their variations clustered in the DUF21 domain of CNNM2. All three type 3 patients had seizures from 1 to 6 days after birth; the seizures were refractory, and 1/3 had status epilepticus; ID/DD in these AR-inherited cases was more severe than that of AD-inherited cases; they all had abnormalities of brain magnetic resonance imaging (MRI). Except for one patient whose serum magnesium was the lower limit of normal, others had definite hypomagnesemia. Hypomagnesemia could be improved after magnesium supplement but could not return to the normal level. Variations in the CBS2 domain may be related to lower serum magnesium. However, there was no significant difference in the level of serum magnesium among the patients with three different types of CNNM2-related disorders. The severity of different phenotypes was therefore not explained by decreased serum magnesium. We expanded the spectrum of CNNM2 variants and classified the phenotypes of CNNM2-related disorders into three types. We found that DUF21 domain variations were most associated with CNNM2-related central nervous system phenotypes, whereas hypomagnesemia was more pronounced in patients with CBS2 domain variations, and AR-inherited CNNM2-related disorders had the most severe phenotype. These results provide important clues for further functional studies of CNNM2 and provide basic foundations for more accurate genetic counseling.

scholarly journals Global sagittal spinal alignment in patients with degenerative low-grade lumbar spondylolisthesis

2019 ◽  
Vol 27 (3) ◽  
pp. 230949901988519
Author(s):  
Hiroto Kobayashi ◽  
Kenji Endo ◽  
Yasunobu Sawaji ◽  
Yuji Matsuoka ◽  
Hirosuke Nishimura ◽  
...  
Keyword(s):  
Sacral Slope ◽  
Low Grade ◽  
Spinal Alignment ◽  
Sagittal Spinal Alignment ◽  
Significant Difference ◽  
Degenerative Lumbar Spondylolisthesis ◽  
Lumbar Spondylolisthesis ◽  
Type 3

Purpose: Global sagittal spinal alignment undergoes changes on the basis of sagittal malalignment (trunk inclined forward) in natural degenerative progression. We hypothesized that this change would associate with the disease state of the degenerative lumbar spondylolisthesis (DS). This study aimed to evaluate the global sagittal spinal alignment of low-grade DS by classifying in accordance with sagittal vertical axis (SVA). Methods: The DS group was classified into three types according to the adult spinal deformity classification: type 1, SVA < 40 mm; type 2, 40 mm ≤ SVA < 95 mm; and type 3, 95 mm ≤ SVA. Age and sagittal spinal parameters (thoracic kyphosis, lumbar lordosis (LL), sacral slope (SS), pelvic tilt (PT), and pelvic incidence (PI)) were compared among three types. Results: There were statistically significant differences in age, LL, PI, and PT among the three types. In comparison between two types, there was a statistically significant difference between type 1 and type 2 and between type 1 and type 3, but not between type 2 and type 3 in these parameters. PI tended to increase as the type increases. Furthermore, there was significant difference between types 1 and 3. Conclusion: We evaluated the features of the DS types classified by sagittal alignment. Large PI is one of the risk factors for SVA deterioration of DS. PI may be involved in the onset and progression of DS.

scholarly journals Analysis of the Characteristics and Number of Bicycle–Passenger Conflicts at Bus Stops for Improving Safety

2019 ◽  
Vol 11 (19) ◽  
pp. 5263 ◽  
Author(s):  
Xingchen Yan ◽  
Tao Wang ◽  
Jun Chen ◽  
Xiaofei Ye ◽  
Zhen Yang ◽  
...  
Keyword(s):  
Video Recording ◽  
Longitudinal Direction ◽  
Percentage Error ◽  
Significant Difference ◽  
Conflict Duration ◽  
Passenger Volume ◽  
Bus Stops ◽  
Type 3

This study aimed to analyze the characteristics of bicycle–passenger conflicts at bus stops and develop a model to predict the number of conflicts accurately. This paper investigated the traffic flow operation at bus stops by video recording. Duration and distribution characteristics of bicycle–passenger conflicts were statistically analyzed. Then four types of conflicts defined based on evasive behavior (cyclist yielding as Type 1, cyclist bypassing as Type 2, passenger yielding as Type 3, and passenger bypassing as Type 4) were compared. A generalized event count (GEC) model was established for bicycle–passenger conflict estimation and analysis. The main results indicated that: (1) The average conflict duration was 1.716 s, whilst 60.9% of conflicts existed near the accesses of bus stops in longitudinal direction; (2) Type 1 conflict was significantly different from Type 2, 3, and 4 conflicts in duration, whilst the three had no significant difference; (3) the proposed GEC model showed good performance in predicting bicycle–passenger conflicts, with 15.71% of mean-absolute-percentage-error and 0.8772 of R2; and (4) bicycle volume, bus passenger volume, and passenger crossing time were critical factors impacting the number of bicycle–passenger conflicts. Finally, transport agencies may consider installing separations and crosswalks to improve the safety of the stop area.

scholarly journals Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Tim Phetthong ◽  
Thipwimol Tim-Aroon ◽  
Arthaporn Khongkraparn ◽  
Saisuda Noojarern ◽  
Chulaluck Kuptanon ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Age Of Onset ◽  
Lysosomal Storage ◽  
Pathogenic Variants ◽  
Medical Centers ◽  
Neurologic Involvement ◽  
Therapeutic Research ◽  
Type 3

Abstract Background Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3 or chronic neuronopathic GD. The purposes of this study were to describe clinical characteristics of Thai GD in patients diagnosed and/or followed up during 2010–2018 and to perform re-genotyping including analysis of GBA recombinant alleles which had not been investigated in Thai patients before. Results There were 27 patients from seven medical centers, enrolled in the study. All the cases had pediatric onset. GD3 (44.5%) was the most common phenotype, followed by GD2 (40.7%) and GD1 (14.8%), with one case of neonatal GD. The median age of onset for GD1, GD2, and GD3 was 72, 4 and 12 months, respectively, suggesting relatively earlier onset of GD1 and GD3 in Thai patients. All patients with GD1 and most patients with GD3 received ERT. Four patients with GD3 had ERT followed by HSCT. Patients with GD3 who received no or late ERT showed unfavorable outcomes. We identified 14 variants including two novel (p.S384F and p.W533*) and 12 reported pathogenic variants: p.L483P, p.N409S, p.R159W, p.P305A, p.A175G, p.D448H, p.V414L, IVS2+1G>A, IVS6-1G>C, IVS7+1G>C, IVS9-3C>G, and Rec1a. The p.L483P was the most prevalent allele found in this study, at 66% (33/50 alleles), followed by IVS2+1G>A, Rec1a, and IVS6-1G>C. Twenty-four percent of patients were reassigned with validated genotypes, most of whom (4 of 6) were patients with GD2. The [p.S384F + p.W533*] being compounded with p.L483P, was found in the patient with neonatal GD, suggesting that the p.S384F could potentiate the deleterious effect of the p.W533*, and/or vice versa. Conclusions Neuronopathic GD was strikingly prevalent among Thai affected population. Homozygous p.L483P was the most common genotype identified in Thai patients. Recombinant allele Rec1a and splicing mutations were associated with GD2 and severe cases of GD3. Mutation spectrum could be useful for designing stepwise molecular analysis, genetic screenings in population, and new therapeutic research for neuronopathic GD.

Lactoseries carbohydrate antigen, Gal beta 1-4GlcNAc-R, is expressed by a subpopulation of capsaicin-sensitive rat sensory neurons

1996 ◽  
Vol 76 (4) ◽  
pp. 2192-2199 ◽  
Author(s):  
L. P. Del Mar ◽  
R. S. Scroggs
Keyword(s):  
Carbohydrate Antigen ◽  
Current Amplitude ◽  
Membrane Properties ◽  
High Threshold ◽  
Outer Cell ◽  
Inward Current ◽  
Significant Difference ◽  
Type 3

1. The membrane properties of dorsal root ganglion (DRG) cells expressing the lactoseries carbohydrate antigen Gal beta 1-4GlcNAc-R were studied and compared with those of DRG cells lacking this antigen. Acutely dissociated rat DRG cells that expressed Gal beta 1-4GlcNAc-R on their outer cell membranes were detected with the use of a primary monoclonal mouse IgM antibody (A5), directed against Gal beta 1-4GlcNAc-R, and a fluorescent secondary antibody (fluorescein-conjugated goat anti-mouse IgM). We found 12.8 micrograms/ml of A5 to be a saturating concentration of primary antibody that labeled approximately 19% of the DRG cells. A battery of membrane properties including action potential (AP) duration; sensitivity to capsaicin; expression of H current (IH), A current (IA), and Ca2+ current subtypes (L, N, and T); and inhibition of high-threshold Ca2+ currents by serotonin (5HT) or 8-hydroxy-2-(di-N-propylamino)-tetralin (8-OH-DPAT) was measured in DRG cells labeled (A5+) and unlabeled (A5-) by a saturating concentration of A5. 2. There was a significant difference in the number of capsaicin-sensitive DRG cells and a significant difference in the magnitude of the capsaicin-induced inward current in A5+ versus A5- DRG cells. Of 35 A5+ cells tested, 33 were sensitive to 1 microM capsaicin, which produced an inward current averaging 4 +/- 0.46 (SE) nA (n = 33). In contrast, only 12 of 33 A5- cells were sensitive to 1 microM capsaicin, which produced an inward current averaging 1.2 +/- 0.52 nA (n = 12). 3. There were also significant differences between A5+ and A5- cells regarding average AP duration, N- and T-type Ca2+ current amplitude, and number of cells that expressed IH and IA. A5+ cells had significantly larger N-type Ca2+ currents and expressed IA more frequently than A5- cells. Conversely, A5- cells had significantly longer AP duration and larger T-type Ca2+ currents, and expressed IH more frequently compared with A5+ cells. 4. A5+ and A5- cells differed regarding the inhibition of high-threshold Ca2+ currents by maximal concentrations of 5HT1A agonists (10 microM 5HT or 1 microM 8-OH-DPAT). Inhibition of Ca2+ currents in A5+ cells by 1 microM 8-OH-DPAT (n = 15) or 10 microM 5HT (n = 18) averaged 4 +/- 0.9%. In contrast, inhibition of Ca2+ currents in A5- cells by 10 microM 5HT (n = 33) averaged 20 +/- 3.8%. 5. Cells for which sufficient data were collected were categorized as type 1, 2, 3, or 4 on the basis of sensitivity to capsaicin and expression of IH, IA, and T-type Ca2+ current amplitude, and the distribution of A5+ and A5- cells among the various groups was observed. The categories were defined as follows: type 1 (capsaicin sensitive, no IH or IA); type 2 (capsaicin sensitive, significant IA); type 3 (capsaicin insensitive, T-type Ca2+ currents < 1 nA, significant IH but no IA); and type 4 (capsaicin insensitive, T-type Ca2+ currents > 2.4 nA). On the basis of this criteria, 6 of 15 type 1 cells and all type 2 cells (n = 19) were A5+. All type 3 cells (n = 8) and all type 4 cells (n = 11) were A5-. 6. As indicated above, the expression of the Gal beta 1-4GlcNAc-R antigen differentiated two subgroups of DRG cells in the type 1 category (A5+, n = 6 and A5-, n = 9). These two groups varied regarding the sensitivity of Ca2+ currents to maximally effective concentrations of 5HTIA agonists. In type 1 A5+ DRG cells, high-threshold Ca2+ currents were not significantly inhibited by 1 microM 8-OH-DPAT (average inhibition = 1.2 +/- 0.8%, n = 6). However, in type 1 A5- cells, high-threshold Ca2+ currents were reduced 47 +/- 6.0% (n = 9) by 10 microM 5HT. 7. The several significant differences in membrane properties between A5+ and A5- DRG cells suggest that the Gal beta 1-4GlcNAc-R antigen is expressed by a distinct subset of DRG cells, consisting predominately of type 1 and type 2 cells. The observation that most A5+ DRG cells were capsaicin sensitive suggests that the Gal beta 1-4GlcNAc-R antigen is expressed primarily by n

scholarly journals Failed Dermal Allograft Procedures in Irreparable Rotator Cuff Tears Can Still Improve Pain and Function. The “Biologic Tuberoplasty Effect”

2018 ◽  
Vol 6 (7_suppl4) ◽  
pp. 2325967118S0009
Author(s):  
Raffy Mirzayan ◽  
Michael Allan Stone ◽  
Michael Batech ◽  
Daniel Acevedo ◽  
Anshu Singh
Keyword(s):  
Rotator Cuff ◽  
Average Length ◽  
Rotator Cuff Tears ◽  
Double Row ◽  
Significant Difference ◽  
Goutallier Classification ◽  
And Function ◽  
Type 3

Objectives: Massive rotator cuff tears (MRCT) are a challenging problem. Dermal allografts have been used in “bridging” procedures and superior capsule reconstruction (SCR). Both have led to clinical improvement, but without correlation with post-operative imaging. The purpose of this study is to examine graft integrity on MRI in patients who underwent an SCR or bridging procedure to determine if graft integrity correlates with functional outcome. We also propose a new classification of dermal allograft re-tear on MRI. Methods: This study was approved by our IRB. Between 2006 and 2016, 11 patients (12 shoulders) underwent a bridging procedure and 10 patients underwent an SCR for MRCT with a dermal allograft by a single surgeon. The grafts were secured to the tuberosity in a double-row, trans-osseous equivalent (DR-TOE) fashion. Pre- and post-operative VAS, acromiohumeral distance (AHD), and ASES scores, and pre-operative Hamada grade and Goutallier classification were prospectively collected and retrospectively reviewed. An MRI was obtained on all patients post-operatively to assess graft integrity. The status of the graft was divided into three types based on MRI findings: Type 1- Graft intact medially (rim of cuff or glenoid) AND laterally (greater tuberosity); Type 2- Graft intact laterally but torn medially; Type 3- Graft torn laterally. The shoulders were then grouped based on these types for further analysis. Results: The average age was 61 (range: 49-73). Average follow-up was 21.6 months (range: 8-80). Average length from surgery to MRI was 13.9 months (range: 6-80). There was a significant improvement in VAS (pre-8.1 to post-1.3) and ASES (pre-26.3 to post-84.6) in Type 1 (P<0.01) and in VAS (pre-7.0 to post-0.7) and ASES (pre-32.6 to post-91.2) in Type 2 (P<0.01). There was no difference in post-operative VAS (1.3 vs 0.7) and ASES (84.6 vs 91.2) between Type 1 and Type 2 (P=0.8). There was no improvement in VAS (pre-7.3 vs post-5.7) and ASES (pre-30.6 vs post-37.2) in Type 3. There was a significant difference in post-operative VAS (5.7 vs 1) and ASES (37.2 vs 88.1) between Type 3 versus Types 1+2, respectively (P<0.01). The AHD decreased in type 3 (pre-7.8 mm to post-3.2 mm, P=0.02) but did not change in Types 1+2 (pre-7.8 mm to post-8.0 mm, P=0.7). Conclusion: In patients who have SCR or “bridging” procedures for MRCT with a dermal allograft, there is significant improvement in VAS and ASES scores if the graft heals to the tuberosity, regardless if it is still intact to the glenoid (in SCR) or the rim of rotator cuff tendon (“bridging”). Individuals whose graft is torn from the tuberosity did not have improvement in VAS or ASES scores versus baseline. There was no significant difference in AHD in all groups. We believe that the dermal graft acts as a “biologic (interpositional) tuberoplasty,” preventing bone-to-bone contact between the tuberosity and the acromion, thus eliminating pain and improving function. We still recommend performing an SCR when indicated because it has been shown to restore the normal kinematics of the shoulder in a laboratory setting. However, careful attention should be paid to the repair of the graft to the tuberosity, so that in case the primary procedure fails medially, the graft can still improve pain and function.

scholarly journals Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

2021 ◽  
Author(s):  
Tim Phetthong ◽  
Thipwimol Tim-Aroon ◽  
Arthaporn Khongkraparn ◽  
Saisuda Noojarern ◽  
Chulaluck Kuptanon ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Age Of Onset ◽  
Lysosomal Storage ◽  
Pathogenic Variants ◽  
Medical Centers ◽  
Neurologic Involvement ◽  
Therapeutic Research ◽  
Type 3

Abstract Background Gaucher disease (GD is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD type 1 or nonneuronopathic GD; GD type 2 or acute neuronopathic GD; and GD type 3 or chronic neuronopathic GD. The purposes of this study were to describe clinical characteristics of Thai GD in patients diagnosed and/or followed up during 2010–2018 and to perform re-genotyping including analysis of GBA recombinant alleles which had not been investigated in Thai patients before. Results There were 27 patients from seven medical centers, enrolled in the study. All the cases had pediatric onset. GD3 (44.5%) was the most common phenotype, followed by GD2 (40.7%) and GD1 (14.8%), with one case of neonatal GD. The median age of onset for GD1, GD2, and GD3 was 72, 4 and 12 months, respectively, suggesting relatively earlier onset of GD1 and GD3 in Thai patients. All patients with GD1 and most patients with GD3 received ERT. Four patients with GD3 had ERT followed by HSCT. Patients with GD3 who received no or late ERT showed unfavorable outcomes. We identified 14 mutations including two novel (p.S384F and p.W533*) and 12 reported pathogenic variants: p.L483P, p.N409S, p.R159W, p.P305A, p.A175G, p.D448H, p.V414L, IVS2 + 1G > A, IVS6-1G > C, IVS7 + 1G > C, IVS9-3C > G, and Rec1a. The p.L483P was the most prevalent allele found in this study, at 66% (33/50 alleles), followed by IVS2 + 1G > A, Rec1a, and IVS6-1G > C. Twenty-four percent of patients were reassigned with validated genotypes, most of whom (4 of 6) were patients with GD2. The [p.S384F + p.W533*] being compounded with p.L483P, was found in the patient with neonatal GD, suggesting that the p.S384F could potentiate the deleterious effect of the p.W533*, and/or vice versa. Conclusions Neuronopathic GD was strikingly prevalent among Thai affected population. Homozygous p.L483P was the most common genotype identified in Thai patients. Recombinant allele Rec1a and splicing mutations were associated with GD2 and severe cases of GD3. Mutation spectrum could be useful for designing stepwise molecular analysis, genetic screenings in population, and new therapeutic research for neuronopathic GD.

Clinical and Biological Features of 43 Acute Megakaryoblastic Leukemia (AMKL) in Children: A Comparison of Down Syndrome-AMKL and De Novo AMKL.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 2774-2774
Author(s):  
Asahito Hama ◽  
Hiroshi Yagasaki ◽  
Koji Kato ◽  
Kimikazu Matsumoto ◽  
Keizo Horibe ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Stem Cell ◽  
Complete Remission ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
De Novo ◽  
Blast Cells ◽  
Type 3

Abstract AMKL is a rare subtype of acute myelogenous leukemia. In children, AMKL frequently develops in patients with Down syndrome (DS-AMKL). Until now, few large series of childhood AMKL have been reported. We reviewed 43 children with AMKL diganosed between 1987 and 2005 at Nagoya University Hospital and Japanese Red Cross Nagoya First Hospital. The diagnosis of AMKL was established on the basis of cell morphology and was confirmed by the positivity of immunophenotyping against CD41 and CD36. The diagnosis for several patients was also confirmed by platelet peroxidase staining using an electron microscope. The morphology of blast cells was categorized into three groups according to the stage of cell maturation: type 1 = completely undifferentiated blasts; type 2 = intermediately differentiated blasts with characteristic blebs; and type 3 = blasts with dysmegakaryocytopoiesis, including the presence of micromegakaryocytes. Twenty-five patients (58%) had DS-AMKL and 18 (42%) had de novo AMKL. The median age was 20 months (range, 8–38 months) for DS-AMKL and 12 months (range, 2–185 months) for de novo AMKL. The ratio of boys to girls was 1: 0.8 for DS-AMKL and 0.5:1 for de novo AMKL. The initial white blood cell count and lactic dehydrogenase levels were much higher in patients with de novo AMKL than in those with DS-AMKL. The morphology of blast cells in DS-AMKL and de novo AMKL were distributed as follows: type 1 (67%, 57%), type 2 (24%, 43%), and type 3 (9%, 0%), respectively. The results of immunophenotyping in the DS-AMKL and de novo AMKL group, respectively, were as follows: CD41 (88%, 87%), CD7 (96%, 70%), CD33 (84%, 90%), Gly (67%, 0%), and CD34 (70%, 20%). Cytogenetic studies were performed for 23 patients with DS-AMKL and 18 patients with de novo AMKL. Normal karyotype including +21 in DS-AMKL was noted in 5 patients with DS-AMKL and in 1 patient with de novo AMKL. Numerical chromosomal anomalies were common in both groups. Patients with DS-AMKL had +8 (4 patients), additional +21 (1 patient), and −7/del(7q) (6 patients). Patients with de novo AMKL had +8 (5 patients), +21 (7 patients), and −7/del(7q) (2 patients). The specific AMKL-associated translocation such as t (1:22) was noted in 2 patients with de novo AMKL and 3q21q26 was noted in 1 patient with de novo AMKL. In patients with DS-AMKL, 24 of 25 (96%) achieved complete remission. Relapse occurred in 2 patients, and 2 different patients died of cardiac problems. Of the 25 patients with DS-AMKL, 21 (84%) are currently surviving. Of the 18 patients with de novo AMKL, 12 of 17 (71%) patients achieved complete remission. One patient did not receive induction therapy. Thirteen patients received stem cell transplantation (allogeneic, 6; autologous, 7), and 13 of 18 patients (72%) are currently surviving. The estimate of 5-year survival was 83.3% for patients with DS-AMKL and 71.8% for patients with de novo AMKL (p=0.38). Our study shows the diverse heterogeneity of childhood AMKL and the need for subclassification according to megakaryocytic maturation. The blast cells seem more immature in DS-AMKL than in de novo AMKL in terms of morphology and immunophenotyping. The prognosis of DS-AMKL is excellent. Although prognosis of de novo AMKL was very poor in previous studies, our results using stem cell transplantation are promising.

scholarly journals Finger Length Ratio (2D:4D) and Aging

2020 ◽  
Vol 44 (1) ◽  
pp. 1-12
Author(s):  
Leonid Kalichman ◽  
Valery Batsevich ◽  
Eugene Kobiliansky
Keyword(s):  
Reproductive Period ◽  
Length Ratio ◽  
Finger Length ◽  
Right Hand ◽  
Significant Difference ◽  
The Right ◽  
Type 3 ◽  
Finger Length Ratio

This study aimed to evaluate the association between the index to ring (2D:4D) finger length ratio and aging-related traits (hand osteoarthritis (OA), the osseographic score (OSS), and reproductive period), as well as to assess the heritability of finger length. A Chuvashian population-based sample included 802 males (mean age 46.98±17.10 years) and 738 females (mean age 48.65±16.62 years). Age, sex, basic demographics, anthropometric data, reproductive indices (age at menarche, menopausal age, and length of the reproductive period), and x-rays of both hands were collected. Finger length ratio was measured on x-ray and each hand was visually classified as either type 1 – 2D&gt;4D; type 2 ― 2D=4D; or type 3 ― 2D&lt;4D. Hand OA was defined by the number of affected joints (Kellgren-Lawrence score ≥2) and the total of Kellgren-Lawrence scores (total OA score). OSS is a skeletal biomarker that comprises osteoporotic and OA changes observable on a hands x-ray. We calculated the familial correlations and performed a heritability analysis of 2D:4D ratio traits in a studied sample. After comparing the OA variables of individuals with different finger length ratio types (after adjustment for age and BMI) significant differences were found only in females between finger ratio types of the right hand in a number of affected joints (F=3.153, p=0. 043) and finger ratio types of the left (F=3.330, p=0. 036) and right (F=2.397, p=0. 047) hands of the total OA score. Females with type 3 ratio had the highest adjusted values of hand OA parameters. Results of one-way ANCOVA for finger length ratio types of the right hand showed a significant difference in OSS (df =2, F=7.569, P=0.001), after adjustment for age, sex, and BMI. The posthoc comparison showed that individuals with type 3 (2D&lt;4D) ratio showed significantly higher OSS scores than ones with type 1 (p=0.012) and type 2 (p=0.003). In an analysis of finger length ratio types of left hand also a significant difference in OSS was found (df=2, F=3.290, P=0.038). The posthoc comparison showed that individuals with type 3 ratio showed significantly higher OSS scores than ones with type 2 (p=0.33) ratio. We found that a low finger length ratio, a masculine visually evaluated finger length ratio type, was associated with later menarche and a shorter reproductive period. No association was found with menopausal age. Familial correlations of finger length ratio traits showed no significant correlation for spouses, however, parent-offspring (0.15―0.28, p&lt;0.001) and sibling correlations (0.13―0.38, p&lt;0.009) were found significant. Heritability (H2) of visual classification of finger length ratio was 0.36 for the left and 0.28 for the right hand; finger ratio was 0.55 and 0.66, respectively; the ray ratio was 0.49 and 0.59, respectively, thus indicating the existence of a clear familial aggregation of finger length ratio variation in the Chuvashian pedigrees, which cannot be explained by pure common environmental effects.

scholarly journals Prisutnost plakova na karotidnim arterijama kod osoba sa poremecajem glikoregulacije

2008 ◽  
Vol 55 (1) ◽  
pp. 43-46
Author(s):  
Z.N. Savic ◽  
P.B. Djordjevic ◽  
M.M. Ilic ◽  
S.S. Popovic ◽  
V. Dimitrijevic-Sreckovic ◽  
...  
Keyword(s):  
Risk Factors ◽  
De Novo ◽  
Clinical Manifestations ◽  
Intima Media Thickness ◽  
Diabetes Mellitus Type 1 ◽  
Diabetic Patients ◽  
Significant Difference ◽  
Type 1 Dm

Purpose: The aim of this study was measurement of artery intima media thickness (IMT) and plaques as an early indicator of atherosclerosis in diabetics comparing with other risk factors of carotid artery. Methods and Materials: 110 pts: 50 with Diabetes Mellitus, type 1 (25) and type 2 (25), 20 pts with glucose intolerance, 20 pts with type 2 de novo and 20 pts obese without diabetes. Ultrasound examination (using 7.5MHz sound on Toshiba SSA- 270A) end measurement of intima-media ticknes (IMT) were performed on Carotis communis (CCA), bifurcation and distal from bifurcation to a.carotis intern (ACI), expressed in mm. Plaques were correlated with other common factors age, BP, lipid parameters (Chol, HDL, LDL, Triglycerides), smokes, alcoholism and obese (BMI). The authors used 2 test and Spearman?s correlation . Results: The lowest percent of plaques was found in group with type DM 1. The highest percent of plaques was found in type DM 2. Statistically there is highly significant difference between plaques founded on type 2 DM and types 2 DM de novo and on other types. Conclusion: DM is not an independent risk factor for developing of macroangiopathic changes an arterial walls, but their appirience are more presenting in diabetic patients. The highest number of plaques are presenting DM type 2 (29.6%), and after type 2 de novo (26.8%), the next highest position of plaques were in patients with obese but without DM and intolerantio glucosae (IFG+IGT) (17.1%) and type 1 DM (9.8%). Risk factors were presented in following percentage : Obese 80.5% pts; hyperlipidema 53.7% pts; HTA 51.3%; smoking 51.2% pts and alchocholism 2.4% pts. According to these results, all risk factors were included in patophysiology of plack forming except alcoholism. Influences of these risk factors are very importance and their synergic action lids to their rapid appirience and clinical manifestations. DM has specific position in patophisiology of atherosclerosis.

scholarly journals Computed Tomography Analysis of the Ethmoid Roof: A Region at Risk in Endoscopic Sinus Injury

2019 ◽  
Vol 19 (2) ◽  
pp. 108-115
Author(s):  
Pra Urusopone
Keyword(s):  
Computed Tomography ◽  
Facial Bones ◽  
Significant Difference ◽  
The Mean ◽  
Type 3 ◽  
Tomography Analysis

Objective: To determine the olfactory fossa depth according to the Keros classification and determine the incidence of asymmetry in height and configuration of the ethmoid roof. Materials and Methods: Retrospective analysis of 75 coronal computed tomography studies of paranasal sinuses and facial bones were performed. Measurement of the depth of the lateral lamella, classification of the depth according to Keros type and determination of the asymmetries in the ethmoid roof depth and configuration were done. Results: The mean height of the lateral lamella cribiform plate (LLCP) was 2.15+1.29 mm. The cases were classified as 87.33% Keros type1 and 12.67 % as Keros type 2. No Keros type 3 was found .There was asymmetry in the LLCP height of 33.33% of cases and a configuration asymmetry in 8% of the cases. No significant difference between the mean height and distribution of Keros type between gender and laterality were also found. Conclusion: As regards the olfactory fossa depth, the Keros type 1 was most frequently found. Asymmetry in the depth and configuration were detected in 33.33 and 8% respectively. Risk of inadvertent intracranial entry through the lateral lamella among Thai may be lower than other studies with majority of cases classified as Keros type 2 or 3.

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