Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families

2019 ◽  
Vol 57 (12) ◽  
pp. 1837-1845 ◽  
Author(s):  
Martin Volkmann ◽  
Rudolf Richter ◽  
Thomas Herrmann ◽  
Sabine Hentze ◽  
Michaela Hör ◽  
...  
Keyword(s):  
Nucleic Acid ◽  
Genetic Analysis ◽  
Light Chain ◽  
Transferrin Saturation ◽  
Serum Levels ◽  
Ophthalmological Examination ◽  
Ferritin Synthesis ◽  
Bulge Region ◽  
Iron Response Element ◽  
History Of

Abstract Background In hereditary hyperferritinaemia-cataract syndrome (HHCS), single nucleic acid alterations in the ferritin light chain (L-ferritin) iron response element (IRE) constitutively derepress ferritin synthesis, resulting in hyperferritinaemia, L-ferritin deposits in the lens of the eye and early bilateral cataract onset. Methods In this study, six German families with putative HHCS were analysed. Clinical diagnosis of HHCS was based on medical history, evaluation of ferritin serum levels, transferrin saturation and clinical ophthalmological examination. Diagnosis was confirmed by polymerase chain reaction (PCR)-based DNA sequencing of the L-ferritin IRE. Results Genetic analysis of the L-ferritin IRE revealed relevant single nucleic acid alterations in each of the affected families. Variants c.-168G > A, c.-168G > U and c.-167C > U were located in the C-bulge region; and variants c.-161C > U and c.-157G > A were located in the hexanucleotide loop of the L-ferritin IRE. Conclusions Family history of hyperferritinaemia and juvenile cataracts are strong indicators of HHCS. Genetic analysis of the L-ferritin IRE is a straightforward procedure to confirm the diagnosis. Accurate diagnosis of hyperferritinaemia can avoid unnecessary treatment by venesection, and focus attention on early cataract detection in offspring at risk.

scholarly journals Thirty years after anorexia nervosa onset, serum neurofilament light chain protein concentration indicates neuronal injury

2020 ◽  
Author(s):  
Elisabet Wentz ◽  
Sandra Rydberg Dobrescu ◽  
Lisa Dinkler ◽  
Carina Gillberg ◽  
Christopher Gillberg ◽  
...  
Keyword(s):  
Anorexia Nervosa ◽  
Single Molecule ◽  
Light Chain ◽  
Axonal Degeneration ◽  
Neuronal Injury ◽  
Serum Levels ◽  
Neurofilament Light Chain ◽  
Neurofilament Light ◽  
National Patient ◽  
History Of

Abstract Little is known about the long-term consequences of anorexia nervosa (AN) in terms of possible brain neuronal injury. We aimed at investigating whether women with adolescent-onset AN exhibit increased serum levels of neurofilament light chain protein (NfL), a biomarker for neuronal injury, compared with matched controls at 30-year follow-up. Blood samples were collected from 34 women with adolescent-onset AN and 38 matched healthy comparison women (COMP), at a mean age of 44 years (range 38–48 years). NfL was measured in serum using the in-house single molecule array (Simoa) method. The individuals were asked whether they or their parents had been diagnosed with dementia. The Swedish National Patient Register was searched for diagnoses related to dementia. Serum NfL concentrations were significantly higher in the AN group (AN 27.7 pg/ml; COMP 19.0 pg/ml; p = 0.041). When individuals with medical/neurological disorders in the AN and COMP groups were excluded, there was a statistically non-significant trend towards higher concentrations in the AN group (AN 27.4 pg/ml; COMP 18.8 pg/ml; p = 0.060). None of the participants had been diagnosed with dementia. There was no significant correlation between serum NfL and AN duration (r = 0.15). There was a moderate negative correlation between the serum NfL concentration and the current BMI in the AN group (r = 0.44). This is the first time that serum NfL has been assessed in middle-aged women with a history of adolescent-onset AN. The results suggest that there might be increased axonal degeneration as a sequel of AN. Individuals remaining underweight had higher serum NfL concentrations than those with a normal/high BMI. Additional studies are needed to confirm increased serum NfL concentrations in individuals recovered from AN. There is a need for further study of axonal degeneration as a consequence of AN.

scholarly journals Comparison of pregnenolone sulfate, pregnanolone and estradiol levels between patients with menstrually-related migraine and controls: an exploratory study

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Cecilia Rustichelli ◽  
Elisa Bellei ◽  
Stefania Bergamini ◽  
Emanuela Monari ◽  
Flavia Lo Castro ◽  
...  
Keyword(s):  
Exploratory Study ◽  
Serum Levels ◽  
Enzyme Linked Immunosorbent Assay ◽  
Control Group ◽  
Allosteric Modulator ◽  
Positive Allosteric Modulator ◽  
Pregnenolone Sulfate ◽  
Menstrually Related Migraine ◽  
History Of ◽  
Estradiol Levels

Abstract Background Neurosteroids affect the balance between neuroexcitation and neuroinhibition but have been little studied in migraine. We compared the serum levels of pregnenolone sulfate, pregnanolone and estradiol in women with menstrually-related migraine and controls and analysed if a correlation existed between the levels of the three hormones and history of migraine and age. Methods Thirty women (mean age ± SD: 33.5 ± 7.1) with menstrually-related migraine (MM group) and 30 aged- matched controls (mean age ± SD: 30.9 ± 7.9) participated in the exploratory study. Pregnenolone sulfate and pregnanolone serum levels were analysed by liquid chromatography-tandem mass spectrometry, while estradiol levels by enzyme-linked immunosorbent assay. Results Serum levels of pregnenolone sulfate and pregnanolone were significantly lower in the MM group than in controls (pregnenolone sulfate: P = 0.0328; pregnanolone: P = 0.0271, Student’s t-test), while estradiol levels were similar. In MM group, pregnenolone sulfate serum levels were negatively correlated with history of migraine (R2 = 0.1369; P = 0.0482) and age (R2 = 0.2826, P = 0.0025) while pregnenolone sulfate levels were not age-related in the control group (R2 = 0.04436, P = 0.4337, linear regression analysis). Conclusion Low levels of both pregnanolone, a positive allosteric modulator of the GABAA receptor, and pregnenolone sulfate, a positive allosteric modulator of the NMDA receptor, involved in memory and learning, could contribute either to headache pain or the cognitive dysfunctions reported in migraine patients. Overall, our results agree with the hypothesis that migraine is a disorder associated with a loss of neurohormonal integrity, thus supporting the therapeutic potential of restoring low neurosteroid levels in migraine treatment.

scholarly journals Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Joaquim Nelito da Silveira-Neto ◽  
Guilherme Jinson de Oliveira Ahn ◽  
Precil Diego Miranda de Menezes Neves ◽  
Vinicius Augusto Ferreira Baptista ◽  
Stanley de Almeida Araújo ◽  
...  
Keyword(s):  
Latin America ◽  
Family History ◽  
Kidney Disease ◽  
Genetic Analysis ◽  
Apolipoprotein E ◽  
Total Cholesterol ◽  
Kidney Biopsy ◽  
Lipoprotein Glomerulopathy ◽  
History Of ◽  
Secondary Causes

Abstract Background Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant disease caused by mutations in APOE, the gene which encodes apolipoprotein E. LPG mainly affects Asian individuals, however occasional cases have also been described in Americans and Europeans. Herein we report two unrelated Brazilian patients with LPG in whom genetic analyses revealed the APOE-Osaka/Kurashiki variant. Case presentation - case 1 A 29-year-old Caucasian male sought medical attention with complaints of face swelling and foamy urine for the last 3 months. He denied a family history of kidney disease, consanguinity, or Asian ancestry. His tests showed proteinuria of 12.5 g/24 h, hematuria, serum creatinine 0.94 mg/dL, albumin 2.3 g/dl, total cholesterol 284 mg/dL, LDL 200 mg/dL, triglycerides 175 mg/dL, and negative screening for secondary causes of glomerulopathy. A kidney biopsy revealed intraluminal, laminated deposits of hyaline material in glomerular capillaries consistent with lipoprotein thrombi. These findings were confirmed by electron microscopy, establishing the diagnosis of LPG. His apolipoprotein E serum level was 72 mg/dL and genetic analysis revealed the APOE pathogenic variant c.527G > C, p.Arg176Pro in heterozygosis, known as the Osaka/Kurashiki mutation and positioned nearby the LDL receptor binding site. Case 2 A 34-year-old Caucasian man sought medical assessment for renal dysfunction and hypertension. He reported intermittent episodes of lower-limb edema for 3 years and a family history of kidney disease, but denied Asian ancestry. Laboratorial tests showed BUN 99 mg/dL, creatinine 10.7 mg/dL, total cholesterol 155 mg/dL, LDL 79 mg/dL, triglycerides 277 mg/dL, albumin 3.1 g/dL, proteinuria 2.7 g/24 h, and negative screening for secondary causes of glomerulopathy. His kidney biopsy was consistent with advanced chronic nephropathy secondary to LPG. A genetic analysis also revealed the Osaka/Kurashiki variant. He was transplanted a year ago, displaying no signs of disease relapse. Conclusion We report two unrelated cases of Brazilian patients with a diagnosis of lipoprotein glomerulopathy whose genetic assessment identified the APOE-Osaka/Kurashiki pathogenic variant, previously only described in eastern Asians. While this is the second report of LPG in Latin America, the identification of two unrelated cases by our medical team raises the possibility that LPG may be less rare in this part of the world than currently thought, and should definitely be considered when nephrotic syndrome is associated with suggestive kidney biopsy findings.

scholarly journals Simultaneous Occurrence of Choriocarcinoma in an Infant and Mother

2021 ◽  
Vol 18 (4) ◽  
pp. 1934
Author(s):  
Małgorzata Rzanny-Owczarzak ◽  
Joanna Sawicka-Metkowska ◽  
Katarzyna Jończyk-Potoczna ◽  
Ewelina Gowin ◽  
Patrycja Sosnowska-Sienkiewicz ◽  
...  
Keyword(s):  
Rare Disease ◽  
Organ Failure ◽  
Liver Tumor ◽  
Serum Levels ◽  
Simultaneous Occurrence ◽  
Positive History ◽  
Multi Organ Failure ◽  
History Of

Infantile choriocarcinoma is an extremely rare disease. We present a case study of a 1-month-old male with choriocarcinoma diagnosed simultaneously with his mother. On admission to hospital, the disease was very advanced and massive progression and multi-organ failure caused the death of the patient despite the implemented treatment. It was too late to save the child’s life, but early enough to save his mother. The authors believe that the serum levels of hCG should be determined in every newborn with anemia and liver tumor, especially when the mother has a positive history of miscarriage.

scholarly journals Are RNA-Based Tests Sufficient for COVID-19 Diagnosis? An Inspiration of Three Asymptomatic Cases

2021 ◽  
Vol 30 ◽  
pp. 096368972098545
Author(s):  
Tao Hu ◽  
Xiao Liu ◽  
Qinan Yin ◽  
Xingting Duan ◽  
Li Yan
Keyword(s):  
Computed Tomography ◽  
Nucleic Acid ◽  
Virus Infection ◽  
Severe Acute Respiratory Syndrome ◽  
The Other ◽  
Computed Tomography Scan ◽  
Health Authorities ◽  
History Of ◽  
Tomography Scan ◽  
Nucleic Acid Tests

In this work, we discovered a new phenomenon—asymptomatic COVID-19 infection, or covert case, during the pandemic. All the 3 patients had a history of exposure, with no symptoms, and no abnormalities were found in computed tomography scan or lab tests. Except for case 2, the other patients’ severe acute respiratory syndrome coronavirus 2 (SARS-COV-2) nucleic acid tests were negative. But their anti-SARS-COV-2 nucleocapsid antibody showed a dynamic trend, consistent with the process of virus infection and clearance. A growing number of asymptomatic or covert cases need more attention. Lack of surveillance may lead to another outbreak. We hope to demonstrate our cases to attract the attention of governments or health authorities that covert cases should be the focus as well.

Clinical and diagnostic aspects of deep infiltrative endometriosis (diagnosis, treatment, recurrence)

GYNECOLOGY ◽  
2021 ◽  
Vol 23 (4) ◽  
pp. 307-313
Author(s):  
Shakhnoza K. Muftaidinova ◽  
Leonid Z. Faizullin ◽  
Vladimir D. Chuprynin ◽  
Nikolai S. Ruseikin ◽  
Tatiana I. Smolnova ◽  
...  
Keyword(s):  
Surgical Treatment ◽  
Hormonal Therapy ◽  
Serum Levels ◽  
Ca 125 ◽  
Prior History ◽  
Deep Endometriosis ◽  
Preoperative Serum ◽  
Peritoneal Endometriosis ◽  
History Of ◽  
Deep Infiltrative Endometriosis

Aim. To analyze the recurrence of endometriosis after surgical treatment of patients with deep endometriosis. Materials and methods. The case histories of 90 patients aged 19 to 45 years were retrospectively analyzed. The study group consisted of 70 endometriosis patients: 20 with peritoneal endometriosis and 50 with deep infiltrative endometriosis (DIЕ). The comparison group included 20 women without endometriosis. There was an in-depth study of anamnestic data in the cohort of patients under study. The results of preoperative laboratory tests, including serum levels of the CA-125 and CA 19-9 oncomarkers, were processed. Results. Analysis of the obtained data showed that about half of the DIE patients (54%) in the main group had a history of surgical interventions for endometriosis. The number of operations was significantly higher in patients compared to the peritoneal endometriosis group (68% vs 20%, respectively; р=0.0012). Two subgroups were formed from the group of women with DIE: patients who had no history of previous surgical treatment for endometriosis and those hospitalized for repeated surgical treatment of endometriosis (patients with recurrent endometriosis). Patients with recurrent endometriosis had a significantly higher incidence of heavy menstruation, pregnancy terminations (abortions), and a high proportion of gastrointestinal diseases. Analysis of the hormonal therapy received in patients with DIE showed that every second patient with relapses (18/53%) after surgical treatment and every third patient without a prior history of surgery (5/31%) received hormonal therapy. Examination of the preoperative serum levels of CA-125 and CA 19-9 serum markers in patients with DIE showed an increase in their serum levels and a correlation with the frequency of endometriosis recurrence and the size of DIE foci. Conclusion. Despite the conservative and surgical treatment of DIE patients, the recurrence rate is still high. At present, there is no satisfactory therapy for all endometriosis patients. Therefore, the development of therapy for the conservative treatment of the disease remains an urgent task.

Physical Development and Medical History of Children Who Were Treated Antenatally With Corticosteroids to Prevent Respiratory Distress Syndrome: A 10- to 12-Year Follow-up

PEDIATRICS ◽  
1990 ◽  
Vol 86 (1) ◽  
pp. 65-70 ◽  
Author(s):  
H. Smolders-de Haas ◽  
J. Neuvel ◽  
B. Schmand ◽  
p. E. Treffers ◽  
J. G. Koppe ◽  
...  
Keyword(s):  
Infectious Diseases ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Medical History ◽  
Distress Syndrome ◽  
Hospital Admissions ◽  
Controlled Trial ◽  
Ophthalmological Examination ◽  
Double Blind ◽  
History Of

Potential side effects of antenatal administration of corticosteroids to prevent neonatal respiratory distress syndrome were studied in 10- to 12-year-old children whose mothers had participated in a randomized, double-blind, placebo-controlled trial of betamethasone. The children had a general physical examination; parents were interviewed about the medical history of their child with special attention to infectious diseases; growth data were collected; and a developmental neurological examination, an ophthalmological examination, and a lung function test were conducted. In the corticosteroid group significantly more hospital admissions because of infectious diseases during the first years of life were reported. On the other variables no differences between the corticoid and the placebo groups were found.

scholarly journals Mannan-Binding Lectin Levels and Activity Are Not Altered in Atopic Dermatitis Patients with a History of Eczema Herpeticum

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Kemp W. Bundy ◽  
Laura Y. McGirt ◽  
Lora G. Bankova ◽  
Andreas Wollenberg ◽  
Lisa A. Beck ◽  
...  
Keyword(s):  
Atopic Dermatitis ◽  
Functional Activity ◽  
Viral Infections ◽  
Serum Levels ◽  
Small Samples ◽  
Eczema Herpeticum ◽  
Increased Risk ◽  
History Of ◽  
Mannan Binding Lectin ◽  
Binding Lectin

Background. Eczema herpeticum (EH) is a potentially serious, systemic complication in subjects with atopic dermatitis (AD) caused by herpes simplex virus (HSV). The innate immune dysregulation that predisposes these subjects to cutaneous viral infections is not well understood. We tested the hypothesis that defects in mannan-binding lectin (MBL) may be associated with an increased risk of EH.Methods. We evaluated serum MBL levels and functional activity in 13 AD subjects with a history of EH (EH+) and 21 AD subjects with no history of EH (EH−). MBL levels were detected by enzyme immunoassay. MBL pathway functional activity was evaluated by determining MBL C4b deposition capacity.Results. We found no statistical difference in MBL serum levels or function between EH+ and EH− groups.Conclusion. Considering the limitations of this study (e.g., small samples size) our findings suggest that MBL defects do not play a role in EH.

Genetic analysis of a heritage variety collection

2018 ◽  
Vol 17 (03) ◽  
pp. 232-244 ◽  
Author(s):  
J. M. Preston ◽  
B. V. Ford-Lloyd ◽  
L. M. J. Smith ◽  
R. Sherman ◽  
N. Munro ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Group Method ◽  
Niche Markets ◽  
Principal Coordinates Analysis ◽  
Pair Group ◽  
Landrace Diversity ◽  
Principal Coordinates ◽  
Length Polymorphisms ◽  
Seed Saving ◽  
History Of

AbstractLandraces (including heritage varieties) are an important agrobiodiversity resource offering considerable value as a buffer against crop failures, as a crop for niche markets, and as a source of diversity for crop genetic improvement activities underpinning future food security. Home gardens are reservoirs of landrace diversity, but some of the accessions held in them are vulnerable or threatened with extinction. Those associated with seed saving networks have added security, for example, ca. 800 varieties are stored in the Heritage Seed Library (HSL) of Garden Organic, UK. In this study, Amplified Fragment Length Polymorphisms-based genetic analysis of accessions held in the HSL was used to (a) demonstrate the range of diversity in the collection, (b) characterize accessions to aid collection management and (c) promote broader use of the collection. In total, 171 accessions were included from six crops: Vicia faba L., Pisum sativum L., Daucus carota L., Cucumis sativus L., Lactuca sativa L. and Brassica oleracea L. var. acephala (DC.) Metzq. Average expected heterozygosity ranged from 0.18 to 0.28 in D. carota; 0.02–0.18 in P. sativum; 0.05–0.18 in L. sativa; 0.15–0.26 in B. oleracea var. acephala; 0.15–0.37 in C. sativus and 0.07–0.36 in V. faba. Genetic diversity and Fst values generally reflected the breeding system and cultivation history of the different crops. Comparisons of the diversity found in heritage varieties with that found in commercial varieties did not show a consistent pattern. Principal coordinates analysis and Unweighted Pair Group Method with Arithmetic Mean cluster analysis were used to identify four potential duplicate accession pairs.

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