scholarly journals Ethnicity and Geographic Distribution of Pediatric Chronic Ataxia in Manitoba

2014 ◽  
Vol 41 (1) ◽  
pp. 29-36 ◽  
Author(s):  
Michael S. Salman ◽  
Shaheen Masood ◽  
Meghan Azad ◽  
Bernard N. Chodirker
Keyword(s):  
Ethnic Groups ◽  
Geographic Distribution ◽  
Joubert Syndrome ◽  
Unknown Etiology ◽  
Multiple Sources ◽  
Related Disorder ◽  
Pyramidal Tracts ◽  
Neuronal Migration Disorders ◽  
Progressive Ataxia ◽  
Genetic And Environmental Factors

Background:Genetic and environmental factors are important determinants of disease distribution. Several disorders associated with ataxia are known to occur more commonly in certain ethnic groups; for example, the disequilibrium syndrome in the Hutterites. The aim of this study was to determine the ethnic and geographic distribution of pediatric patients with chronic ataxia in Manitoba, Canada.Methods:We identified 184 patients less than 17 years-of-age with chronic ataxia during 1991-2008 from multiple sources. Their diagnosis, ethnicity and place of residence were determined following a chart review.Results:Most patients resided in Manitoba (N=177) and the majority in Winnipeg, the provincial capital. Thirty five Aboriginal, 29 Mennonite and 11 Hutterite patients resided in Manitoba. The latter two groups were significantly overrepresented in our cohort. Ataxia telangiectasia, mitochondrial disorders, and non-progressive ataxia of unknown etiology associated with pyramidal tracts signs and developmental delay were significantly more common in Mennonite patients. Four of five patients with neuronal migration disorders associated with chronic ataxia were Aboriginal. Few isolated disorders with chronic ataxia occurred in the 11 Hutterite patients including a Joubert syndrome related disorder.Conclusions:Three disorders associated with chronic ataxia were more prevalent than expected in Mennonites in Manitoba. Few rare disorders were more prevalent in the Hutterite and Aboriginal population. Further research is needed to determine the risk factors underlying these variations in prevalence within different ethnic groups. The unique risk factor profiles of each ethnic group need to be considered in health promotion endeavors.

scholarly journals PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports

2022 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ming Chang ◽  
Chih-Chia Chen ◽  
Ni-Chung Lee ◽  
Junne-Ming Sung ◽  
Yen-Yin Chou ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Renal Disease ◽  
Case Reports ◽  
Genetic Disorder ◽  
Unknown Etiology ◽  
Related Disorder ◽  
Multiple Systems ◽  
Genetic Sequencing ◽  
Renal Hypodysplasia

Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease.

scholarly journals MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

2009 ◽  
Vol 30 (2) ◽  
pp. E432-E442 ◽  
Author(s):  
Francesco Brancati ◽  
Miriam Iannicelli ◽  
Lorena Travaglini ◽  
Annalisa Mazzotta ◽  
Enrico Bertini ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Liver Involvement ◽  
Related Disorder

scholarly journals Geographic Clusters of Primary Biliary Cirrhosis

2003 ◽  
Vol 10 (2-4) ◽  
pp. 127-131 ◽  
Author(s):  
Saif Abu-Mouch ◽  
Carlo Selmi ◽  
Gordon D. Benson ◽  
Thomas P. Kenny ◽  
Pietro Invernizzi ◽  
...  
Keyword(s):  
Autoimmune Disease ◽  
Primary Biliary Cirrhosis ◽  
Environmental Factors ◽  
Small Area ◽  
Bile Ducts ◽  
Unknown Etiology ◽  
Biliary Cirrhosis ◽  
The Third ◽  
High Prevalence ◽  
Genetic And Environmental Factors

Genetic and environmental factors have been widely suggested to contribute to the pathogenesis of primary biliary cirrhosis (PBC), an autoimmune disease of unknown etiology leading to destruction of small bile ducts. Interestingly, epidemiologic data indicate a variable prevalence of the disease in different geographical areas. The study of clusters of PBC may provide clues as to possible triggers in the induction of immunopathology. We report herein four such unique PBC clusters that suggest the presence of both genetic and environmental factors in the induction of PBC. The first cluster is represented by a family of ten siblings of Palestinian origin that have an extraordinary frequency of PBC (with 5/8 sisters having the disease). Second, we describe the cases of a husband and wife, both having PBC. A family in which PBC was diagnosed in two genetically unrelated individuals, who lived in the same household, represents the third cluster. Fourth, we report a high prevalence of PBC cases in a very small area in Alaska. Although these data are anedoctal, the study of a large number of such clusters may provide a tool to estimate the roles of genetics and environment in the induction of autoimmunity.

scholarly journals Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

2019 ◽  
Vol 6 (6) ◽  
pp. 2726
Author(s):  
Garima Goyal ◽  
Ajay Arya
Keyword(s):  
Congenital Anomalies ◽  
Joubert Syndrome ◽  
Magnetic Resonance Images ◽  
Molar Tooth ◽  
Multicystic Dysplastic Kidney ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomalies ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Dysplastic Kidney

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).

scholarly journals Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1648
Author(s):  
Sandy Siegert ◽  
Gabriel T. Mindler ◽  
Christof Brücke ◽  
Andreas Kranzl ◽  
Janina Patsch ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Joubert Syndrome ◽  
Single Family ◽  
Related Disorder ◽  
Abnormal Gait ◽  
Duane Syndrome ◽  
Neurogenetic Disorders ◽  
Gait Abnormalities ◽  
Callosal Dysgenesis ◽  
Hip Rotation

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in FAM149B1-ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the FAM149B1-related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of FAM149B1-related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.

scholarly journals Cohort Profile: The China Northwest Cohort study

2021 ◽  
Author(s):  
Chao Li ◽  
Yezhou Liu ◽  
Guoshuai Shi ◽  
Baibing Mi ◽  
Lingxia Zeng ◽  
...  
Keyword(s):  
Cohort Study ◽  
Ethnic Groups ◽  
Disease Incidence ◽  
Northwest China ◽  
Population Based ◽  
Medical Examination ◽  
Baseline Survey ◽  
Face To Face ◽  
Genetic And Environmental Factors ◽  
Northwest Region

Abstract BackgroundThe China Northwest Cohort study (CNC), a community population-based prospective observational study, aimed to investigate specific aetiology causes of NCDs and the long-term health hazards of NCDs in the northwest region of China with different ethnic groups.Study design and methodsA total of 118,572 participants (aged 35–74 years and including the Han, Uygur, Kazakh, Hui and Tibetan ethnic groups from five provinces of northwest China) were recruited between June 2018 and May 2019. Approximately 10% of the participants will be actively followed every 3 years via face-to-face interviews with the use of concise questionnaires to review risk exposures and disease incidence, as well as to review biological specimens, including blood, saliva and stool samples, which will be collected. Passive follow-ups will be conducted by periodic linking (every 6 months) of baseline survey data to establish electronic disease registries. The questionnaire survey, a regular medical examination and the storage of blood samples were conducted in the CNC baseline survey for all of the participants. Several other items from the medical examination were recorded for approximately 40% of the participants.DiscussionAmong the total participants, the proportions of Han, Uygur, Kazakh, Hui and Tibetan ethnicities were 75.3%, 13.0%, 1.7%, 8.2% and 1.3%, respectively. Many lifestyle and medical history factors were different across the ethnic groups. The genetic information from the multi-ethnic individuals, combined with abundant personal and environmental information, provided an important opportunity to reveal complex and specific mechanisms of the genetic and environmental factors associated with NCDs.

scholarly journals Joubert syndrome related disorder (JSRD): a case report and review of literature

2017 ◽  
Vol 4 (3) ◽  
pp. 1124
Author(s):  
Seema Sharma ◽  
Ajay Sharma ◽  
Vipin Sharma ◽  
Sandesh Guleria
Keyword(s):  
Case Report ◽  
Early Intervention ◽  
Eye Movements ◽  
Joubert Syndrome ◽  
Accurate Diagnosis ◽  
Review Of Literature ◽  
Radiological Findings ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Intervention Measures

Joubert syndrome and related disorder (JSRD) is a rare disorder of midline structure of brain having characteristic clinical and neuro-radiological findings. The hallmark of diagnosis is molar tooth sign (MTS). Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. We are hereby presenting a case of eight months old female infant with abnormal eye movements since birth along with developmental delay. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder. 

scholarly journals One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Renata Yakubov ◽  
Asaly Ayman ◽  
Adi Klein Kremer ◽  
Machiel van den Akker
Keyword(s):  
Clinical Presentation ◽  
Unknown Etiology ◽  
Facial Features ◽  
Electrolyte Balance ◽  
Limited Information ◽  
Related Disorder ◽  
Case Presentation ◽  
Cytogenetic Location ◽  
Pseudohypoaldosteronism Type

Abstract Background It is not uncommon that an infant with a disease of unknown etiology is presented to a physician. Facial dysmorphic features lead to a different diagnosis. It is a challenge to link the presentation to the newfound diagnosis. Case presentation A 37-day-old Yemenite Jewish girl was presented to our institution with a clinical picture of pseudohypoaldosteronism due to abnormal facial features and a psychomotor developmental delay. Further investigation led to the diagnosis of CDK13-related disorder. According to the literature, CDK13 has a key role in the cell cycle, but no interference with the aldosterone signaling pathway or electrolyte balance was described. No mutations in the previously described gene NR3C2 (cytogenetic location 4q31.23), encoding the mineralocorticoid receptor, were found. Although the clinical presentation corresponded to pseudohypoaldosteronism type 1, we could not genetically confirm this. Conclusions Probably pseudohypoaldosteronism was a coincidental finding in this girl with a CDK13 mutation, but because only limited information is known about CDK13-related disorders, further investigation could be more informative to clarify this presentation.

scholarly journals Traditional Uses of the Family Piperaceae in Oaxaca, Mexico

2019 ◽  
Vol 12 ◽  
pp. 194008291987931 ◽  
Author(s):  
Brian Giovanni Martínez-Bautista ◽  
Luis Alberto Bernal-Ramírez ◽  
David Bravo-Avilez ◽  
Marie-Stéphanie Samain ◽  
José Manuel Ramírez Amezcua ◽  
...  
Keyword(s):  
Ethnic Groups ◽  
Geographic Distribution ◽  
Ethnobotanical Knowledge ◽  
Scientific Publications ◽  
Ritual Plants ◽  
The Family ◽  
Voucher Specimens ◽  
Unidentified Species ◽  
Single Use ◽  
The Relationship

The ethnobotanical importance of the family Piperaceae is recognized mainly for its medicinal properties. A total of 106 species of two genera of this family ( Piper and Peperomia) have been collected in Oaxaca, but only 18 are recorded in scientific publications as medicinal, edible, veterinary, or ritual plants. The objectives of this study are to describe the traditional knowledge and uses of the Piperaceae in areas of high biocultural diversity of Oaxaca and to analyze the relationship between its geographic distribution with ethnobotanical records among ethnic groups. Fieldwork was carried out between 2013 and 2016, and voucher specimens were reviewed in Mexican herbaria. Two multivariate analyses were applied to compare the geographic distribution of Piperaceae with ethnobotanical knowledge in Oaxaca. A total of 13 species of Peperomia, and 7 of Piper were collected, besides some unidentified species of both genera. Seven use categories were registered, with medicinal and edible being the most important. A high percentage (65%) of the species is named in at least one native language. Most species have a single use, mainly medicinal. Peperomia has been collected in Oaxaca since 1980, while Piper since 1960. Multivariate analysis indicated the existence of a differentiated ethnobotanical knowledge of this family among ethnic groups, related to the geographic distribution of species. This study evidences that ethnic groups, who maintain areas of higher biodiversity, obtain these species mainly from the wild, from specific microenvironments; hence, conservation practices must be reinforced for them, as for all ecosystems in general.

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