scholarly journals Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

2019 ◽  
Vol 77 (2) ◽  
pp. 96-100 ◽  
Author(s):  
Márcia Waddington Cruz ◽  
Marcus Vinicius Pinto ◽  
Luiz Felipe Pinto ◽  
Renata Gervais ◽  
Moisés Dias ◽  
...  
Keyword(s):  
Family History ◽  
Symptom Onset ◽  
Correct Diagnosis ◽  
Age At Onset ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Familial Amyloid Polyneuropathy ◽  
Transthyretin Amyloidosis ◽  
Disease Characteristics ◽  
Amyloid Polyneuropathy

ABSTRACT Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy.

scholarly journals Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)

2015 ◽  
Vol 24 (5) ◽  
pp. 756-760 ◽  
Author(s):  
Diana Santos ◽  
Teresa Coelho ◽  
Miguel Alves-Ferreira ◽  
Jorge Sequeiros ◽  
Denisa Mendonça ◽  
...  
Keyword(s):  
Age At Onset ◽  
Familial Amyloid Polyneuropathy ◽  
Amyloid Polyneuropathy ◽  
Fap Attrv30m

scholarly journals A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal

2017 ◽  
Author(s):  
Miguel Alves-Ferreira ◽  
Teresa Coelho ◽  
Diana Santos ◽  
Jorge Sequeiros ◽  
Isabel Alonso ◽  
...  
Keyword(s):  
Age At Onset ◽  
Familial Amyloid Polyneuropathy ◽  
Amyloid Polyneuropathy

Postpartal psychosis: Serbian experience

2011 ◽  
Vol 26 (S2) ◽  
pp. 1098-1098
Author(s):  
M. Jasovic-Gasic ◽  
A. Damjanovic ◽  
M. Ivkovic ◽  
B. Dunjic-Kostic
Keyword(s):  
Family History ◽  
Psychiatric Disorders ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Significant Risk ◽  
Significant Risk Factor ◽  
Psychiatric Disturbances ◽  
Psychological Disturbances ◽  
Clinical Center ◽  
History Of

IntroductionChildbirth and the postpartal period present a form of specific maturational crisis and an extremely vulnerable period for every woman, especially for those who have potential for some psychological disturbances.AimWe explored sociodemographic and clinical manifestations of women in the postpartal period who were hospitalized at the Institute of Psychiatry, Clinical Center of Serbia.MethodThis retrospective study included 60 patients with psychiatric disorders developed within six months after childbirth. Inclusion criteria were: negative psychiatric hystory, negative history of puerperal episode, and postpartal disorder as a first manifestation of psychiatric disturbances. Patients were diagnosed according to RDC criteria (research diagnostic criteria).ResultsPatients with psychotic features were predominant, average age 23.6; married; mothers of male offspring and with positive family history of psychiatric disorders in 30%. Subacute development of clinical manifestations was noticed, 3.5 weeks after childbirth on average. No psychopathology was observed before third postpartal day. Obstetric manifestations did not influence psychopathology.ConclusionChildbirth is a significant risk factor for the expression of mental dysfunction in the puerperal period. The most vulnerable group is women with clinical expression of dysfunction, specific sociodemographic characteristics, and positive family history of psychiatric disorders.

scholarly journals Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Basil M. Fathalla ◽  
Elham Ahmed Elgabaly ◽  
Ahmad Abou Tayoun
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Family History ◽  
Single Gene ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Pathogenic Variant ◽  
Imaging Findings ◽  
Polyarticular Juvenile Idiopathic Arthritis ◽  
Progressive Pseudorheumatoid Dysplasia

Abstract Background A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA. Case presentation An Arabic family with PPRD was diagnosed using whole-exome sequencing (WES), revealing a novel c.707delG pathogenic variant in the WISP3 gene. The proband was referred at 10 years old for possible diagnosis of polyarticular JIA based on progressive arthropathy for three years. He was already on naproxen and methotrexate. We suspected familial noninflammatory arthropathy based on clinical manifestations, imaging findings, and family history. WES confirmed the molecular diagnosis of PPRD in the proband and one sister with a similar phenotype. An unexpected p.A744S MEFV pathogenic variant was detected in the proband, parents, and affected sister. Conclusions Early identification and diagnosis of familial noninflammatory arthropathies such as PPRD can prevent unnecessary use of immunosuppressive medications. Diagnosis requires high suspicion in children with early onset arthritic changes, absence of elevated inflammatory markers, specific imaging findings, and positive family history suggestive of an autosomal recessive disorder. We highlight the advantages of WES over single-gene analysis in such cases.

Abstract TMP94: Frequencies of Hereditary Cerebral Small Vessel Diseases Among Patients With Adult-Onset Leukoencephalopathy

Stroke ◽  
2020 ◽  
Vol 51 (Suppl_1) ◽  
Author(s):  
Masahiro Uemura ◽  
Hiroaki Nozaki ◽  
Naoko Sakai ◽  
Shouichirou Ando ◽  
Masato Kanazawa ◽  
...  
Keyword(s):  
White Matter ◽  
Family History ◽  
Small Vessel Disease ◽  
Age At Onset ◽  
Positive Family History ◽  
Small Vessel ◽  
Adult Onset ◽  
Genetic Tests ◽  
Neurological Signs ◽  
White Matter Disorders

Introduction: Recently, various causative genes have been identified in adult-onset white matter disorders. Some of these genes cause cerebral small vessel disease (CSVD). However, the frequency of genetic CSVD is unknown in the group of adult-onset white matter disorders (leukoencephalopathy). The purpose of this study is to clarify the frequency of genetic CSVD in adult-onset leukoencephalopathy patients and to examine their clinical features. Methods: One hundred patients in the Japanese cohort were included. All patients had neurological symptoms/signs and white matter lesions of grade 3/III classified by Fazekas grade on magnetic resonance imaging. Initially, genetic tests for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), high-temperature requirement A serine peptidase 1 (HTRA1)- related CSVD and retinovasculopathy with cerebral leukoencephalopathy (RVCL) were performed by Sanger method. For the remaining samples, we preformed whole exome sequencing. Patients were divided into groups according to the age at onset of neurological signs/symptoms and family history. Results: In 40 of 100 patients with leukoencephalopathy, we identified genetic mutations that cause CSVD: twenty-five patients with CADASIL,10 patients with HTRA1 -related CSVD, 3 patients with pseudoxanthoma elasticum (PXE), 1 patient with RVCL, and 1 patient with a mutation in COL4A1 . More than 85% patients have mutations in NOTCH3 or HTRA1 . In addition, we identified 3 patients with vanishing white matter disease, and 1 patient with X-linked adrenoleukodystrophy. The hereditary CSVDs other than CADASIL or HTRA1 -related CSVD were identified in the groups of age at onset ≤ 40 years-old irrespective of family history or age at onset ≤ 55 years-old with family history. Conclusions: The frequencies of genetic CSVDs were quite high among patients with leukoencephalopathy with neurological signs/symptoms. Although the genetic tests for CADASIL and HTRA1- related CSVD are sufficient for the most patients, we should consider the other genetic diseases especially for the patients with younger age onset of neurological signs/symptoms or positive family history.

Molecular and genetic features of primary hyperparathyroidism in young patients

2016 ◽  
Vol 62 (2) ◽  
pp. 4-11 ◽  
Author(s):  
Elizaveta O. Mamedova ◽  
Natalya G. Mokrysheva ◽  
Ekaterina A. Pigarova ◽  
Iya A. Voronkova ◽  
Sergey N. Kuznetsov ◽  
...  
Keyword(s):  
Family History ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Carcinoma ◽  
Positive Family History ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Genetic Characteristics ◽  
Men1 Gene ◽  
Ion Torrent Pgm ◽  
Genetic Features

When primary hyperparathyroidism (PHPT) is diagnosed in a young patient in the absence of other clinical manifestations differential diagnosis between a sporadic form of PHPT and PHPT as the first manifestation of one of hereditary syndromes may be challenging. Diagnosis of sporadic or hereditary PHPT determines the extent of surgical intervention, a strategy for further observation and treatment, and the need for examination and treatment of first-degree relatives. Aim of the study — to determine genetic characteristics of PHPT with manifestation at a young age (<40 years old) with clinically sporadic PHPT and familial isolated hyperparathyroidism (FIHP).Material and methods. 40 patients with manifestation of PHPT at the age younger than 40 years, 4 of which with FIHP, were included in the study. In 11 patients Sanger sequencing of MEN1 gene was performed (ABI 3130 Genetic Analyser, «Applied Biosystems», USA). 37 patients underwent next-generation sequencing (NGS) (Ion Torrent PGM, Thermo Fisher Scientific — Life Technologies, USA) using a panel of candidate genes (MEN1, CASR, CDC73, CDKN1A, CDKN1B, CDKN1C, CDKN2A, CDKN2C, CDKN2D). Results. In 3 (7,5%) patients (1 of which with FIHP) we revealed germline heterozygous mutations in MEN1 gene: in exon 9 p.D418N, exon 3 p.R176Q, intron 3 с.654+1G>A. In 4 (4/40, 10%) patients we revealed germline heterozygous mutations in CDC73 gene: 3 nonsense mutations in patients with parathyroid carcinoma — in exon 3 p.R91X, exon 6 p.Q166X, exon 7 p.R229X, and 1 missense mutation in a patient with parathyroid hyperplasia in exon 8 p.R263C. Conclusions. In the majority of cases (75%) PHPT in young patients without positive family history is sporadic. Search for germline mutations in the genes, leading to development of hereditary forms of PHPT (first of all in MEN1 and CDC73), is appropriate in young patients with positive family history, or when positive family history may be suspected, and in patients with parathyroid carcinoma. In the majority (75%) of FIHP cases search for other, probably yet unknown, genes is necessary.

scholarly journals Seven Cases of Gilles de la Tourette's Syndrome: Partial Relief with Clonazepam: A Pilot Study

1977 ◽  
Vol 4 (4) ◽  
pp. 279-283 ◽  
Author(s):  
M. Gonce ◽  
A. Barbeau
Keyword(s):  
Pilot Study ◽  
Family History ◽  
Adjuvant Therapy ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Dopamine Metabolism ◽  
Tourette's Syndrome ◽  
Tourette’S Syndrome ◽  
Controlled Trials ◽  
History Of

SUMMARY:The histories of seven consecutive cases of Gilles de la Tourette's syndrome are presented to exemplify the range of clinical manifestations in this disease and to collate preliminary results with the new benzodiazepine, clonazepam, as a possible adjuvant therapy of this disorder. Controlled trials with clonazepam alone and in association with haloperidol are now justified. Five of our 7 patients had a positive family history of tics, and 2 a confirmed family history of gout. Because clonazepam improves myoclonia and tics and because its mechanism of action possibly involves serotonin, we thought it worthwhile to study simultaneously the relative roles of serotonin and dopamine metabolism in the production of tics, and their relationship to possible defects in purine metabolism in Gilles de la Tourette's syndrome.

scholarly journals Clinical Features of Cluster Headache: A Hospital-Based Study in Taiwan

2021 ◽  
Vol 12 ◽  
Author(s):  
Chien-An Ko ◽  
Guan-Yu Lin ◽  
Chi-Hsin Ting ◽  
Yueh-Feng Sung ◽  
Jiunn-Tay Lee ◽  
...  
Keyword(s):  
Family History ◽  
Cluster Headache ◽  
Tertiary Care ◽  
Time Lag ◽  
Age At Onset ◽  
Positive Family History ◽  
Care Hospital ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Medical College

Most previous studies on cluster headache (CH) focus on Western populations. This study aimed to investigate the clinical characteristics of CH in a neurology outpatient population in Taiwan. A cross-sectional survey was conducted from July 2015 to June 2019 in a medical college affiliated with a tertiary care hospital (Tri-Service General Hospital) in Taiwan. All consecutive patients reporting headache as their chief complaint were asked to participate in a face-to-face interview with a qualified headache specialist and to complete a detailed self-administered questionnaire. The diagnosis of CH was made according to the Third edition of the International Classification of Headache Disorders. The subjects comprised 80 consecutive new CH patients (13 women and 67 men; ratio, 1:5). The mean age at presentation was 36.0 ± 10.8 years (range, 16–64 years), mean age at onset was 27.2 ± 12.1 years (range, 5–65 years), and mean time lag before diagnosis was 9.3 ± 10.5 years (range, 0–46.4 years). Of the total CH patients, 25.3% reported feelings of restlessness during headache episodes. A seasonal predilection was reported by 18% of the CH patients. The use of tobacco was the most common (44/80 patients). Chronic CH was only observed in 5% of the patients and only one patient (1.3%) reported both a positive family history for CH and aura. Features of CH in Taiwanese patients differed from that of Caucasian patients; a lower prevalence of chronic CH, positive family history of CH, and occurrence of aura may be less common in the former than in the latter.

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