scholarly journals Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ning Hua ◽  
Yuxian Ning ◽  
Hui Zheng ◽  
Ledong Zhao ◽  
Xuehan Qian ◽  
...  
Keyword(s):  
Homocysteine Level ◽  
Recurrent Dislocation ◽  
Compound Heterozygous ◽  
New Mutation ◽  
Case Presentation ◽  
Ectopia Lentis ◽  
Cystathionine Beta Synthase ◽  
Serum Homocysteine ◽  
The Common ◽  
High Level

Abstract Background Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications. Case presentation The present study reports the case of a teenager with recurrent lens dislocation and glaucoma. He was diagnosed with CBS deficiency according to a high level of serum homocysteine and compound heterozygous mutations at two different positions on the CBS gene. Antiglaucoma eyedrops and a mydriatic successfully controlled the intraocular pressure, while oral pyridoxine and betaine uptake lowered the serum homocysteine level effectively. Conclusions Children with CBS deficiency may suffer from ectopia lentis, glaucoma and/or amblyopia. We firstly discovered a new mutation of CBS c. 697 T > G which had not been reported before. The patient was pyridoxine responsive and well controlled by medicine.

scholarly journals Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Manhua Xu ◽  
Kaiming Li ◽  
Weimin He
Keyword(s):  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Chinese Patient ◽  
Western China ◽  
Compound Heterozygous ◽  
The Novel ◽  
Case Presentation ◽  
Ectopia Lentis ◽  
Compound Heterozygous Mutations ◽  
Next Generation Sequencing Ngs

Abstract Background Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-beta (TGF-beta) binding proteins(LTBP2) gene mutation is the predominant cause of MSP. In our study, novel compound heterozygous mutations in the LTBP2 gene associated with MSP were reported, which was different from previous reported homozygous mutations. Case presentation The proband was an 18‐year‐old male in Western China with bilateral MSP, accompanied by ectopia lentis, secondary glaucoma and blindness in both eyes. In our hospital, he received bilateral lens resection and trabeculectomy combined with peripheral iridotomy. Using next-generation sequencing (NGS)-based gene panel tests, we identified pathogenic mutations in the peripheral blood DNA sample from the proband: c.3614_3618dupCTGGC (exon24, NM_000428) and c.2819G > A (exon18, NM_000428). The presence of the novel compound heterozygous mutations in the LTBP2 gene was linked with the development of MSP. Sanger sequencing confirmed the existence of one of the two variants in each parent respectively. Conclusion Our results demonstrated a rare case of MSP phenotype associated with novel compound heterozygous mutations in the LTBP2 gene using NGS technology.

Association of Serum Homocysteine Level and Interstitial Lung Disease in Systemic Sclerosis: A Case-control Study

2018 ◽  
Vol 15 (1) ◽  
pp. 74-78
Author(s):  
Mohammadali Nazarinia ◽  
Asghar Zare ◽  
Mohammad javad Fallahi ◽  
Mesbah Shams
Keyword(s):  
Systemic Sclerosis ◽  
Healthy Subjects ◽  
Case Control Study ◽  
Homocysteine Level ◽  
Case Control ◽  
Control Group ◽  
Lung Involvement ◽  
Serum Homocysteine ◽  
The Mean ◽  
Control Study

Background:Systemic sclerosis is a disorder of connective tissue with unknown cause, affecting the skin and internal organs, characterized by fibrotic changes.Objective:To determine the correlation between serum homocysteine level and interstitial lung involvement in systemic sclerosis. </P><P> Materials and Methods: In this case – control study, 59 patients who fulfilled the ACR/EULAR classification criteria for systemic sclerosis and were referred to Hafez Hospital of Shiraz, Iran, were included as the case group. Fifty nine healthy subjects were involved as the control group. Patients were divided into two groups based on interstitial lung involvement and two subtypes, diffuse and limited type. Serum homocysteine, vitamin B12, and folate levels compared between the controls, and cases groups.Results:Of 59 case and control group, 53 (%89.8) were female and the mean age did not differ in both groups (P=0.929). Thirty five (%59.3) patients had interstitial lung involvement and 38(%64.4) had diffuse cutaneous systemic sclerosis. The mean serum homocysteine level was 13.9±6.3 µmol/L in the case and 13.7±9.2 µmol/L in the control group (P=0.86). The mean serum homocysteine level did not differ between the patients with and without interstitial lung involvement (P=0.52). The patients with lung involvement was older than those without lung involvement (P=0.004). Lung disease was more common in diffuse type (P=0.014).Conclusion:In our study, serum homocysteine level did not differ between the patients and healthy subjects. Also, there was no correlation between serum homocysteine level and lung involvement, but lung involvement was more common in older patients and also diffuse subtype.

Negotiations over Accounting Issues: The Congruency of Audit Partner and Chief Financial Officer Recalls

2005 ◽  
Vol 24 (s-1) ◽  
pp. 171-193 ◽  
Author(s):  
Michael Gibbins ◽  
Susan A. McCracken ◽  
Steven E. Salterio
Keyword(s):  
Negotiation Process ◽  
Chief Financial Officers ◽  
Chief Financial Officer ◽  
Relative Importance ◽  
Common Elements ◽  
Contextual Features ◽  
Large Numbers ◽  
The Common ◽  
High Level ◽  
Two Sides

Much of what takes place in auditor-client management negotiations occurs in unobservable settings and normally does not result in publicly available archival records. Recent research has increasingly attempted to probe issues relating to accounting negotiations in part due to recent events in the financial world. In this paper, we compare recalls from the two sides of such negotiations, audit partners, and chief financial officers (CFOs), collected in two field questionnaires. We examine the congruency of the auditors' and the CFOs' negotiation recalls for all negotiation elements and features that were common across the two questionnaires (detailed analyses of the questionnaires are reported elsewhere). The results show largely congruent recall: only limited divergences in recall of common elements and features. Specifically, we show a high level of congruency across CFOs and audit partners in the type of issues negotiated, parties involved in resolving the issue, and the elements making up the negotiation process, including agreement on the relative importance of various common accounting contextual features. The analysis of the common accounting contextual features suggests that certain contextual features are consistently important across large numbers of negotiations, whether viewed from the audit partner's or the CFO's perspective, and hence may warrant future study. Finally, the comparative analysis allows us to identify certain common elements and contextual features that may influence both audit partners and CFOs to consider the accounting negotiation setting as mainly distributive (win-lose).

scholarly journals Recurrent Intraocular Lens Dislocation in a Patient with Familial Ectopia Lentis

2021 ◽  
Vol 18 (9) ◽  
pp. 4545
Author(s):  
Tomasz K. Wilczyński ◽  
Alfred Niewiem ◽  
Rafał Leszczyński ◽  
Katarzyna Michalska-Małecka
Keyword(s):  
Intraocular Lens ◽  
Pars Plana Vitrectomy ◽  
Vision Loss ◽  
Silicone Oil ◽  
Single Case ◽  
Recurrent Dislocation ◽  
Ectopia Lentis ◽  
Pars Plana ◽  
The Right

A 36-year-old patient presented to the hospital with recurrent dislocation of the intraocular lens (IOL). The patient with the diagnosis of familial ectopia lentis was first operated on for crystalline lens subluxation in the left eye in 2007 and in the right eye in 2009. In both eyes, lens extraction with anterior vitrectomy and transscleral fixation of a rigid IOL was performed. In 2011, the IOL in the right eye luxated into the vitreous cavity due to ocular trauma. The patient underwent a pars plana vitrectomy with the IOL resuturation to the sclera. Seven years later, a spontaneous vision loss in the right eye was caused by a retinal detachment. The pars plana vitrectomy with silicone oil tamponade and a consequential oil removal three months later were performed in 2018. The follow-up examination revealed recurrent IOL dislocation in the same eye. Due to a history of previous suture-related complications a decision was made to remove the subluxated rigid polymethyl-methacrylate (PMMA) IOL and fixate to sclera a sutureless SOLEKO FIL SSF Carlevale lens. The purpose of this report is to present a single case of a 36-year-old patient who was presented to the hospital with recurrent dislocation of the intraocular lens. In a three-month follow-up period, a good anatomical and functional outcome was finally obtained with transscleral sutureless intraocular lens. This lens is an option worth considering especially in a young patient with a long life expectancy and physically active.

scholarly journals Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Cristina Collazo Abal ◽  
Susana Romero Santos ◽  
Carmen González Mao ◽  
Emilio C. Pazos Lago ◽  
Francisco Barros Angueira ◽  
...  
Keyword(s):  
Aldehyde Oxidase ◽  
Renal Calculi ◽  
Xanthine Dehydrogenase ◽  
Type I ◽  
Dietary Recommendations ◽  
New Mutation ◽  
Case Presentation ◽  
Hereditary Xanthinuria ◽  
Urine Levels ◽  
Made In

Abstract Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

Caged-electron States and Split-electron States in Endohedral Alkali C60

2021 ◽  
Author(s):  
yifan yang ◽  
Lorenz S Cederbaum
Keyword(s):  
State Of The Art ◽  
Electronic States ◽  
Electron States ◽  
The Common ◽  
High Level

The low-lying electronic states of neutral X@C60(X=Li, Na, K, Rb) have been computed and analyzed by employing state-of-the-art high level many-electron methods. Apart from the common charge-separated states, well known...

Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy

2020 ◽  
Vol 33 (5) ◽  
pp. 671-674
Author(s):  
Tashunka Taylor-Miller ◽  
Jayne Houghton ◽  
Paul Munyard ◽  
Yadlapalli Kumar ◽  
Clinda Puvirajasinghe ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Newborn Period ◽  
Case Presentation ◽  
Male Baby ◽  
Common Causes ◽  
Compound Heterozygous Mutations

AbstractBackgroundCongenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI.Case presentationA term macrosomic male baby, birth weight 4.81 kg, born to non-consanguineous parents, presented on day 1 of life with severe and persistent hypoglycemia. The biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and progressively increased to 15 mg/kg/day to maintain normoglycemia. Sequence analysis identified compound heterozygous mutations in ABCC8 c.4076C>T and c.4119+1G>A inherited from the unaffected father and mother, respectively. The mutations are reported pathogenic. The patient is currently 7 months old with a sustained response to diazoxide.ConclusionsBiallelic ABCC8 mutations are known to result in severe, diffuse, diazoxide-unresponsive hypoglycemia. We report a rare patient with CHI due to compound heterozygous mutations in ABCC8 responsive to diazoxide.

scholarly journals Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla De Angelis ◽  
Alicia B. Byrne ◽  
Rebecca Morrow ◽  
Jinghua Feng ◽  
Thuong Ha ◽  
...  
Keyword(s):  
Cortical Development ◽  
Occipital Cortex ◽  
Compound Heterozygous ◽  
Valuable Insight ◽  
Periventricular Nodular Heterotopia ◽  
Case Presentation ◽  
Malformation Of Cortical Development ◽  
Nodular Heterotopia ◽  
Compound Heterozygous Variants ◽  
Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

scholarly journals Excited delirium syndrome from psychostimulant abuse can mimic a violent scene of death

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Shatishraj Jothee ◽  
Mohamed Swarhib Shafie ◽  
Faridah Mohd Nor
Keyword(s):  
Clinical Manifestations ◽  
The Body ◽  
Law Enforcement Agencies ◽  
Manner Of Death ◽  
Case Presentation ◽  
Excited Delirium ◽  
The Common ◽  
Violent Scene ◽  
Naked Body ◽  
Psychostimulant Abuse

Abstract Background Previous reported cases on excited delirium syndrome studied on the common clinical manifestations of the syndrome. The usual forensics implication for the syndrome is that death commonly is associated with restraint procedures by law enforcement agencies; however, not many cases reported highlights the difficulties in attributing a violent scene of death to the syndrome. Case presentation We present a case of a partially naked body found in an apartment unit under suspicious circumstances with multiple injuries. The scene of death was violent, and the body was found with blood wiped all over the floor and walls. Investigators believed a violent crime had occurred, and a suspect was reprimanded. However, upon autopsy, it was found that all injuries were superficially inflicted and were unlikely to have been part of an act of commission or caused his death. Internal examination found no remarkable pathology. Toxicology revealed a presence of psychostimulants, that is, methamphetamine, MDMA, and ethyl alcohol. Reconstruction of events by the witness, who was initially suspected of the ‘murder’, revealed that the injuries and his death could likely be explained by an episode of excited delirium. Conclusion The case highlights the challenges faced when attributing excited delirium syndrome as a cause of death. The syndrome can present with injuries from aggressive or bizarre behaviour, coupled with the destruction of property, which may confuse investigators on the possible manner of death.

scholarly journals Primary small cell type of non-Hodgkin lymphoma of the colon: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Eyal Meir ◽  
Chovav Handler ◽  
Uri Kaplan ◽  
Doron Kopelman ◽  
Ossama A. Hatoum
Keyword(s):  
Case Report ◽  
Hodgkin Lymphoma ◽  
Small Cell ◽  
Primary Lymphoma ◽  
Cell Type ◽  
Rare Type ◽  
Case Presentation ◽  
Carcinoma Of The Colon ◽  
Non Hodgkin Lymphoma ◽  
High Level

Abstract Introduction Primary lymphoma of the colon is exceedingly rare and comprises 0.2–1% of all colon tumors. The most common subtype of lymphoma in the colon is non-Hodgkin lymphoma. Symptoms are often nonspecific, and treatment varies between chemotherapy alone and a combination of surgery and chemotherapy. Case presentation We describe a case of a Ashkenazi Jew patient who presented in the typical way that carcinoma of the colon might present but turned out to have a very rare type of tumor in both its histology and its location. Conclusion There was apparent discordance between the relative bulkiness and gross appearance of the tumor with the unrevealing result of the biopsies, demanding a high level of suspicion as to the actual presence and possible type of such a tumor in the future.

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