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A recent study conducted at Cheikh Anta Diop University of Dakar focused on antenatal imaging of retinoic acid embryofetopathy, specifically related to isotretinoin exposure during pregnancy. The research highlighted the identification of pulmonary valve agenesis as a new malformation associated with isotretinoin exposure, expanding the known spectrum of related abnormalities. The study emphasized the importance of investigating isotretinoin exposure in cases of conotruncal heart defects without 22q11 deletion. For more information, the full article can be accessed through the Journal of Case Reports and Images in Obstetrics and Gynecology. [Extracted from the article]

A 19-year-old woman with a history of cholestatic pruritis and multiple underlying conditions experienced lack of efficacy with standard treatments like ursodeoxycholic-acid, colesevelam, sertraline, colestyramine, and naltrexone. Off-label therapy with gabapentin and lidocaine, along with ultraviolet radiation, also did not alleviate her symptoms. Ultimately, biliary removal via nasobiliary drainage led to a rapid improvement in her pruritus, and she was discharged from the hospital after three days. [Extracted from the article]

The article discusses the importance of the primary cilium in maintaining healthy neural function in the adult brain. By inducing the ablation of the IFT88 gene in adult mice, researchers observed severe learning deficits and altered brainwave activity, indicating the significance of cilia in cognitive processes. The study suggests that disturbances in ciliary proteins like IFT88 may contribute to cognitive impairments seen in conditions such as Alzheimer's disease, clinical depression, and autism spectrum disorder. [Extracted from the article]

The article discusses the critical role of Inpp5e in maintaining photoreceptor outer segments in both humans and mice. Mutations in the Inpp5e gene can lead to retinal degeneration and blindness in humans, as well as brain and kidney anomalies in mice. The loss of Inpp5e results in severe defects in outer segment morphology, including shortening and reduction in disc formation, Golgi apparatus abnormalities, and mislocalized rhodopsin. This research highlights the importance of Inpp5e in the normal process of outer segment renewal. [Extracted from the article]

A recent study from the National Institute of Mental Health and Neuro-Sciences in Bengaluru, India, focused on a 19-year-old man with mild developmental delay and orofacial anomalies. Genetic analysis revealed a novel homozygous variant in the CPLANE1 gene, which was not previously reported in mutation databases. The research suggests that sequencing population samples could help understand the genetic epidemiology of rare syndromes. This study was supported by various departments in India and has been peer-reviewed. [Extracted from the article]

Researchers at Chongqing Medical University conducted a study on the impact of KIAA0753 on glucose and energy metabolism in osteoblasts. The study found that KIAA0753 can promote glucose metabolism, improve mitochondrial activity, and enhance energy production in osteoblasts. This research provides valuable insights into potential treatments for diabetes-related metabolic issues. [Extracted from the article]

A study conducted at the University of Pavia in Italy focused on Joubert Syndrome (JS), a neurodevelopmental ciliopathy characterized by a mid-hindbrain malformation. The research identified recurring, founder, and hypomorphic variants contributing to the genetic landscape of JS, with 11 recurring variants in seven genes and the presence of novel European founder haplotypes. The study aimed to understand the genetic complexity of JS, its variable prevalence in different regions, and characterize two recurrent hypomorphic variants. The findings were published in the Journal of Medical Genetics and have been peer-reviewed. [Extracted from the article]

Researchers at Hospital de Especialidades in Guanajuato, Mexico, have conducted a study on Joubert syndrome, a neurological disorder with a range of symptoms. The study focuses on a 7-year-old girl with perinatal complications and subsequent neurodevelopmental challenges. The diagnosis of Joubert syndrome was confirmed through MRI, which revealed the characteristic "molar tooth sign." Approximately 25% of cases also exhibit nephronophthisis, impacting kidney function. The study emphasizes the importance of a multidisciplinary approach to managing the symptoms and complications of Joubert syndrome, with prenatal identification through ultrasound and MRI playing a crucial role in diagnosis and treatment. [Extracted from the article]

A recent study conducted by researchers from the Wellcome Sanger Institute and GeneDx has found that most undiagnosed cases of developmental disorders caused by recessive genetic changes are linked to genes that are already known. The study, which analyzed genetic data from nearly 30,000 families affected by developmental disorders, revealed that known genes explain over 80% of cases caused by recessive genetic variants. The study also highlighted the importance of considering a person's genetic background in diagnosis and research, as the contribution of recessive genetic variants to developmental disorders varies significantly across different ethnic groups. The findings provide new insights into the genetic basis of developmental disorders and suggest that focusing on interpreting genetic changes in known recessive genes could improve diagnosis rates. [Extracted from the article]

A recent report from the Medical University of Vienna explores the phenotypic spectrum related to SUFU haploinsufficiency. The study investigates nine individuals from three unrelated families who carry truncating SUFU variants. The research reveals a high variability in clinical features, including motor developmental delay, ocular motor apraxia, and cerebellar signs. Neuroimaging abnormalities were observed in seven of the nine individuals. The study concludes that neurodevelopmental and behavioral abnormalities associated with SUFU haploinsufficiency are mild compared to Joubert syndrome and appear to be well compensated over time. [Extracted from the article]

According to a preprint abstract, mutations in the INPP5E gene can cause retinal degeneration and blindness in humans, as well as brain, kidney, and other anomalies in mice. Researchers generated knockout mice with the INPP5E gene deleted either during or after the formation of photoreceptor outer segments. The loss of INPP5E resulted in severe defects in outer segment morphology, including shortening and reduction in the number of newly forming discs, as well as structural abnormalities in the Golgi apparatus and mislocalized rhodopsin. The study suggests that INPP5E plays a critical role in protein trafficking to the outer segment and the normal process of outer segment renewal. However, it is important to note that this preprint has not been peer-reviewed. [Extracted from the article]

A recent report from the Universidade Federal de Ciencias da Saude de Porto Alegre in Brazil discusses new research on Joubert syndrome, a type of ciliopathy. The study focuses on the role of the KIAA0586 gene in causing various genetic disorders, including Joubert syndrome, short-rib thoracic dysplasia syndrome, hydrolethalus syndrome, and orofaciodigital syndrome IV. The researchers highlight the overlapping clinical features and variable expressivity of ciliopathies, and they discuss the molecular findings that support the diagnosis of these disorders. This study expands our understanding of the genotypic and phenotypic spectrum of ciliopathies. [Extracted from the article]

Researchers at Stanford University have discovered a link between mitochondrial proteins and primary cilia formation. They found that a mutation in the NDUFAF2 protein, which is associated with Leigh syndrome, caused both mitochondrial and ciliary defects. The researchers also identified NDUFAF2 as a binding partner for the ARMC9 protein, which is linked to Joubert syndrome. The study suggests that targeting mitochondrial signaling in ciliopathies could lead to the development of therapeutic approaches. [Extracted from the article]

A recent study conducted in Karnataka, India, focused on a unique case of Joubert syndrome in an adult patient. The patient, a 30-year-old male with intellectual disability, developmental delay, and Type 1 diabetes, presented with kidney dysfunction and uremic symptoms. Physical examination revealed various symptoms, including hypertension, retinitis pigmentosa, and muscle hypotonia. Genetic testing confirmed a homozygous nonsense variant in the AHI1 gene, which is known to cause Joubert syndrome 3. This case is notable for its genetic proof of an AHI1 mutation causing Joubert syndrome in an Indian patient, as well as the co-occurrence of IgA nephropathy with nephronophthisis. [Extracted from the article]

A recent study conducted by researchers at Medipol University in Istanbul, Turkey, has focused on Joubert syndrome (JBTS), a rare autosomal recessive disease classified as a ciliopathy. The diagnosis of JBTS is based on three criteria: the "molar tooth sign" brain imaging finding, hypotonia, and developmental delays. The study highlights the ocular features of JBTS, including oculomotor apraxia, nystagmus, strabismus, and retinal and optic nerve abnormalities. The research also mentions that JBTS-25 is associated with the CEP104 gene and presents rare ocular findings in individuals with this specific mutation. For more information, readers can refer to the case report published in the Indian Journal of Ophthalmology - Case Reports. [Extracted from the article]

A recent study from Chonnam National University in South Korea has reported a case of Joubert syndrome (JS) accompanied by peripheral nervous system abnormalities, specifically bilateral peroneal neuropathies. JS is a rare genetic disorder that primarily affects the central nervous system, but this is the first reported instance of peripheral nerve dysfunction in JS. The researchers highlight the need for further research to explore the association between JS and peripheral nervous system abnormalities, and suggest that detailed genetic testing may be a valuable tool for diagnosing JS when brain imaging studies do not reveal prominent abnormalities. [Extracted from the article]

A recent study conducted at National Cheng Kung University Hospital in Taiwan focused on syndromic ciliopathies, a group of congenital disorders characterized by various symptoms such as obesity, visual problems, skeletal anomalies, intellectual disability, and renal diseases. The researchers aimed to identify the genetic causes of these disorders in Taiwanese patients. Whole exome sequencing (WES) was used to analyze the genotypes of 14 patients with syndromic ciliopathy, leading to the identification of several genetic variants. The study concluded that WES is a valuable tool for identifying pathogenic variants in ciliopathic patients and should be considered as a first-line genetic testing method for heterogeneous disorders involving multiple genes and diverse clinical manifestations. [Extracted from the article]

A recent report from Lovely Professional University in India discusses the management of a 7-year-old patient with Joubert syndrome, a rare genetic disorder that affects the brain. The study focuses on using dynamic neuromuscular stabilisation techniques in conjunction with conventional physiotherapy to improve the patient's postural control and core stability. The intervention involved intensive exercise sessions conducted five times a week over a span of 7 months. The results showed significant improvements in the patient's gross motor function and functional independence. This case study highlights the potential benefits of dynamic neuromuscular stabilisation for individuals with Joubert syndrome and raises awareness about diagnosing and addressing rare diseases. [Extracted from the article]

A recent study conducted by the Macedonian Academy of Sciences and Arts has found a high incidence of CPLANE1-related Joubert syndrome (JS) in products of conceptions from early pregnancy losses (EPLs). The study used polymerase chain reaction-based methods to screen for the CPLANE1 "complex allele" in 246 euploid EPLs and found a high incidence of JS in the total study group of EPLs. The research suggests that targeted screening for the CPLANE1 "complex allele" would be warranted in Albanian ethnic couples. This study contributes to a better understanding of the pathogenicity of variants in the CPLANE1 gene and the pathogenesis of pregnancy loss. [Extracted from the article]

Researchers at Japanese Red Cross Kyoto Daiichi Hospital have reported new findings on Joubert Syndrome (JS), a genetic neurodevelopmental disorder. The study focuses on two siblings who exhibit a mild phenotype of JS with a specific variant in the CEP290 gene. The older sister, aged 19, has shown symptoms such as hypotonia, hypertelorism, and anteverted nares since birth, while the younger sister, aged 13, has mild hypotonia and pendular nystagmus. Both sisters have psychomotor retardation, oculomotor dysfunction, and bilateral renal cysts with normal renal function. The study expands the understanding of the CEP290 variant. [Extracted from the article]

A recent study conducted by researchers from the University of Pittsburgh explores the relationship between genotype and phenotype in Joubert syndrome (JS), a condition characterized by defects in primary cilia that can lead to malformations in various organs. The study analyzed data from 688 individuals with JS across 32 genes and 112 publications to identify correlations between genetic variations and clinical manifestations. The findings suggest that there are clinically meaningful genotype/phenotype relationships within most JS-related genes, which can inform personalized clinical care for individuals with the condition. The study highlights the importance of understanding the genetic basis of JS in order to provide targeted and effective treatments. [Extracted from the article]

Keywords: Central Nervous System Diseases and Conditions; Health and Medicine; Joubert Syndrome; Neurology EN Central Nervous System Diseases and Conditions Health and Medicine Joubert Syndrome Neurology 1301 1301 1 10/09/23 20231013 NES 231013 2023 OCT 13 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Data detailed on Joubert syndrome have been presented. Keywords for this news article include: First Affiliated Hospital of Anhui Medical University, Neurology, Joubert Syndrome, Health and Medicine, Central Nervous System Diseases and Conditions. [Extracted from the article]

Keywords for this news article include: Pavia, Italy, Europe, Neurology, Pediatrics, Joubert Syndrome, Health and Medicine, Diagnostics and Screening, Central Nervous System Diseases and Conditions. Pavia, Italy, Europe, Central Nervous System Diseases and Conditions, Diagnostics and Screening, Health and Medicine, Joubert Syndrome, Neurology, Pediatrics Keywords: Pavia; Italy; Europe; Central Nervous System Diseases and Conditions; Diagnostics and Screening; Health and Medicine; Joubert Syndrome; Neurology; Pediatrics EN Pavia Italy Europe Central Nervous System Diseases and Conditions Diagnostics and Screening Health and Medicine Joubert Syndrome Neurology Pediatrics 529 529 1 09/04/23 20230908 NES 230908 2023 SEP 9 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Central Nervous System Diseases and Conditions - Joubert Syndrome is the subject of a report. [Extracted from the article]

Keywords: Zhengzhou; People's Republic of China; Asia; Genetics; Health and Medicine; Pediatrics EN Zhengzhou People's Republic of China Asia Genetics Health and Medicine Pediatrics 454 454 1 08/21/23 20230825 NES 230825 2023 AUG 26 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Health and Medicine - Pediatrics is the subject of a report. The children were divided into a purely neurological JBTS (pure JBTS) group and JBTS with multi-organ system involvement group and then followed up every 3-6 months. Clinical data of JBTS patients with development retardation and molar tooth sign on cranial imaging as the main features were analyzed. [Extracted from the article]

We present the case of a 3.5-year-old boy born to a healthy consanguineous South Indian couple who was presented with ataxic cerebral palsy (CP) and hearing impairment; medical reports confirmed typical brain malformations of JBTS. Brain Diseases and Conditions, Central Nervous System Diseases and Conditions, Cerebral Palsy, Chronic Brain Damage, Genetics, Health and Medicine, Joubert Syndrome, Neurology Keywords: Brain Diseases and Conditions; Central Nervous System Diseases and Conditions; Cerebral Palsy; Chronic Brain Damage; Genetics; Health and Medicine; Joubert Syndrome; Neurology EN Brain Diseases and Conditions Central Nervous System Diseases and Conditions Cerebral Palsy Chronic Brain Damage Genetics Health and Medicine Joubert Syndrome Neurology 228 228 1 08/14/23 20230818 NES 230818 2023 AUG 18 (NewsRx) -- By a News Reporter-Staff News Editor at Pain & Central Nervous System Week -- Fresh data on Joubert syndrome are presented in a new report. [Extracted from the article]

The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling." Keywords: Central Nervous System Diseases and Conditions; Diagnostics and Screening; Genetics; Health and Medicine; Joubert Syndrome; Neurology EN Central Nervous System Diseases and Conditions Diagnostics and Screening Genetics Health and Medicine Joubert Syndrome Neurology 1677 1677 1 08/07/23 20230811 NES 230811 2023 AUG 11 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on Joubert syndrome have been published. [Extracted from the article]

Brazil, South America, Central Nervous System Diseases and Conditions, Health and Medicine, Joubert Syndrome, Neurology, Sao Paulo Keywords for this news article include: Sao Paulo, Brazil, South America, Central Nervous System Diseases and Conditions, Health and Medicine, Joubert Syndrome, Neurology, University of Sao Paulo. Keywords: Sao Paulo; Brazil; South America; Central Nervous System Diseases and Conditions; Health and Medicine; Joubert Syndrome; Neurology EN Sao Paulo Brazil South America Central Nervous System Diseases and Conditions Health and Medicine Joubert Syndrome Neurology 1568 1568 1 07/03/23 20230707 NES 230707 2023 JUL 7 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on Central Nervous System Diseases and Conditions - Joubert Syndrome have been published. [Extracted from the article]

Keywords: Central Nervous System Diseases and Conditions; Diagnostics and Screening; Health and Medicine; Joubert Syndrome; Kidney; Nephrology; Neurology EN Central Nervous System Diseases and Conditions Diagnostics and Screening Health and Medicine Joubert Syndrome Kidney Nephrology Neurology 1526 1526 1 07/03/23 20230707 NES 230707 2023 JUL 7 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Investigators publish new report on Joubert syndrome. The second and third siblings also had similar clinical findings and the diagnosis of Joubert syndrome was confirmed by the presence of molar tooth sign on MRI. [Extracted from the article]

Keywords for this news article include: Department of Anesthesia, Neurology, Anesthesia, Pain Medicine, Cataract Surgery, Joubert Syndrome, Health and Medicine, Refractive Surgical Procedures, Central Nervous System Diseases and Conditions. Keywords: Anesthesia; Cataract Surgery; Central Nervous System Diseases and Conditions; Health and Medicine; Joubert Syndrome; Neurology; Pain Medicine; Refractive Surgical Procedures; Surgery EN Anesthesia Cataract Surgery Central Nervous System Diseases and Conditions Health and Medicine Joubert Syndrome Neurology Pain Medicine Refractive Surgical Procedures Surgery 1028 1028 1 06/19/23 20230623 NES 230623 2023 JUN 25 (NewsRx) -- By a News Reporter-Staff News Editor at Pain & Central Nervous System Week -- Research findings on Joubert syndrome are discussed in a new report. Anesthesia, Cataract Surgery, Central Nervous System Diseases and Conditions, Health and Medicine, Joubert Syndrome, Neurology, Pain Medicine, Surgery, Refractive Surgical Procedures. [Extracted from the article]

Keywords: Newcastle upon Tyne; United Kingdom; Europe; Central Nervous System Diseases and Conditions; Genetics; Health and Medicine; Joubert Syndrome; Kidney; Nephrology; Neurology; Pediatrics EN Newcastle upon Tyne United Kingdom Europe Central Nervous System Diseases and Conditions Genetics Health and Medicine Joubert Syndrome Kidney Nephrology Neurology Pediatrics 111 111 1 06/05/23 20230609 NES 230609 2023 JUN 10 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Central Nervous System Diseases and Conditions - Joubert Syndrome is the subject of a report. Keywords for this news article include: Europe, Kidney, Genetics, Neurology, Nephrology, Pediatrics, United Kingdom, Joubert Syndrome, Newcastle upon Tyne, Health and Medicine, Central Nervous System Diseases and Conditions. [Extracted from the article]

Coronavirus - COVID-19 Data detailed on COVID-19 have been presented. According to news originating from "Carol Davila" University of Medicineand Pharmacy Bucharest by NewsRx correspondents, research stated,"Pediatric tracheostomy in COVID-19 patients is a rarity.". [Extracted from the article]

Kunming, People's Republic of China, Asia, Central Nervous System Diseases and Conditions, Health and Medicine, Neurology, Pediatrics, Joubert Syndrome Keywords: Kunming; People's Republic of China; Asia; Central Nervous System Diseases and Conditions; Health and Medicine; Joubert Syndrome; Neurology; Pediatrics EN Kunming People's Republic of China Asia Central Nervous System Diseases and Conditions Health and Medicine Joubert Syndrome Neurology Pediatrics 2023 MAR 4 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- New research on Central Nervous System Diseases and Conditions - Joubert Syndrome is the subject of a report. [Extracted from the article]

Keywords: Centrosome; Cytoplasmic Structures; Genetics; Intracellular Space; Microtubule-Organizing Center; Peptides; Peptides and Proteins; Proteins EN Centrosome Cytoplasmic Structures Genetics Intracellular Space Microtubule-Organizing Center Peptides Peptides and Proteins Proteins 2023 FEB 10 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Current study results on proteins have been published. Centrosome, Cytoplasmic Structures, Genetics, Intracellular Space, Microtubule-Organizing Center, Peptides, Peptides and Proteins, Proteins. [Extracted from the article]

The article discusses research from the National Human Genetic Resources Center which investigated the role of a novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 gene in Joubert syndrome, a clinically and genetically heterogeneous group of autosomal recessive neurological disorders.

When scientists conduct clinical research, the traditional method is for the researcher to be the main contributor in the creation of the idea, the study, and the final publication of [...]

The article focuses on the move of the Community Engaged Network for All (CENA), a network of disease advocacy organizations, to deploy the online tool and crowdsourcing model Mosaic to work towards patient centricity in research by involving patients and caregivers at all points of the research process. Topics covered include privacy settings for sharing of health data, a patient-centered research for Joubert Syndrome (JS), and the impact of patient-centered research.

A personal narrative is presented which explores the author's experience of being a mother to a child with Joubert Syndrome, a rare brain malformation. INSET: A Message for Eric.

B Author Information b An event is serious (based on the ICH definition) when the patient outcome is: * death * life-threatening * hospitalisation * disability * congenital anomaly * other medically important event A full term female neonate developed Joubert syndrome, large atrial septal defect, Dandy-Walker malformation, a soft tissue mass on the floor of the mouth and epiglottic aplasia following in-utero exposure of oxcarbazepine. Bedside flexible fiberoptic nasolaryngoscopy showed gross abnormalities including absent epiglottis and hypertrophic arytenoids with diminutive interarytenoid area. It was manifested as breathing abnormalities, midbrain and hindbrain abnormalities, developmental delay, hypotonia, syndactyly, polydactyly and atypical eye movements in the neonate. [Extracted from the article]

B Author Information b An event is serious (based on the ICH definition) when the patient outcome is: * death * life-threatening * hospitalisation * disability * congenital anomaly * other medically important event A female neonate [ I exact age at reaction onset not stated i ] developed Gomez-Lopez-Hernandez syndrome (GLHS) following I in-utero i exposure to misoprostol, whereas her mother [ I age not stated i ] developed bleeding following administration of misoprostol for abortion. The girl was born via Caesarean delivery with a birth weight of 2 850g, height of 47.5cm and occipital frontal circumference of 36.5cm. Morphological examination revealed flat midface, brachyturricephaly, convergent strabismus and bilateral parietal alopecia. [Extracted from the article]

2004 NOV 13 - (NewsRx.com & NewsRx.net) -- Researchers at the University of California, San Diego (UCSD), School of Medicine have discovered the gene for a form of Joubert syndrome, [...]

Reports on the study which found that kidney disease in Arima syndrome resembles disease in other disorders. Assessment of the clinicopathological features of the renal disease in arima syndrome; Evaluation on the decrease of urinary concentrating ability; Examination of the chronic sclerosing tubulointerstitial nephropathy.

The article analyzes the film "Gallivant" and it's director Andrew Kötting. Particular focus is given to the Kötting's direction and his editing skill including in his latest work "Louyre: This Our Still Life and By Our Selves". The film traces the story of the director, his grandmother and his seven-year-old daughter Eden born with a rare genetic disorder Joubert syndrome. The growing closeness between these two and the sense of impending mortality give the film its emotional underpinning.