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Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies.

BACKGROUND: The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liability to pressure palsies (HNPP). PMP22 is not expressed in the adult central nervous system, but previous studies suggest a role in CNS myelin development. The objective of this study was to identify potential structural and functional alterations in the afferent visual system in HNPP patients. METHODS: Twenty HNPP patients and 18 matched healthy controls (HC) were recruited in a cross-sectional study. Participants underwent neurological examination including visua

Newborns with microcephaly in Brazil and potential vertical transmission of Oropouche virus: a case series.

BACKGROUND: Oropouche fever, an orthobunyavirus disease endemic in Brazilian Amazon, has caused many febrile epidemics. In 2024, an epidemic of Oropouche fever spread in Brazil, with more than 7930 cases reported between Jan 1 and Aug 31. Infections in pregnant people have suggested the possibility of negative fetal consequences, therefore we tested newborns with microcephaly for known congenital pathogens and Oropouche virus (OROV). METHODS: In this case series, we assessed historical cases of infants born with microcephaly, arthrogryposis, and other congenital malformations without a confir…

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal manifestations in this rare SMA subtype. METHODS: SMA patients with the 0SMN1/1SMN2 genotype were retrospectively collected using the UMD-SMN1 France database. RESULTS: Data from 16

[Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies in Belarusian patients].

OBJECTIVE: To analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling. MATERIAL AND METHODS: Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination and ENMG study. Genomic DNA was isolated from peripheral blood leukocytes. RESULTS AND CONCLUSION: DNA diagnosis was performed in 5 families (the PMP22 deletion was found in 9 patients

[Course and treatment of myasthenia gravis during pregnancy].

Pregnancy and family planning issues are frequent concerns in the medical care of patients with myasthenia gravis since disease onset often coincides with the life period which is decisive in this respect. Although pregnancy, delivery and breastfeeding represent special circumstances in these patients, they are not associated with higher risks of complications compared to normal pregnancy, delivery and postpartum period. Frequently asked questions regard the course of pregnancy as well as the impact of the disease and particularly medical treatment on pregnancy and the foetus or neonate. Great

[Growth modulation in operative treatment of juvenile scoliosis by USS paediatric].

OBJECTIVE: Growth modulation in operative treatment of juvenile scoliosis can be done by USS paediatric instrumentation to control spinal gr … ees during brace therapy. CONTRAINDICATIONS: Adults. Dysplastic pedicles with vertebral anomalies. Arthrogryposis. SURGICAL TECHNIQUE: The patient should be positioned prone, lying flat on the table. Median skin incision with subperiosteal preparation of the paraspinal muscles is done to expose the vertebrae. Next, the pedicle is prepared with a tap, and the U …

Pathophysiology of HNPP explored using axonal excitability.

OBJECTIVE: Hereditary liability to pressure palsies (HNPP) is an autosomal dominant disorder of myelination resulting in susceptibility to pressure palsies from compression or stretching of peripheral nerves. PATIENTS AND METHODS: This study examined axonal excitability at two sites (one distal and one proximal) in five patients with biopsy and genetically proven HNPP to understand the pathophysiology of the disease. Comparisons were made with age-matched control subjects as well as five Charcot-Marie-Tooth type 1A patients to contrast the findings and explain the different phenotypes of dise

Adverse Reaction to COVID-19 mRNA Vaccination in a Patient With VEXAS Syndrome.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare genetic disorder originating from a somatic mutation in the hematopoietic stem cells. This syndrome was first described in 2020 and carries many clinical features that other conditions cannot explain. Widespread autoinflammation is the primary process the disease presents, with high morbidity and mortality in those who show signs of bone marrow failure. Treatment is complex, and response to current therapies is poor. Long-term prognosis carries a mortality of 50%. In addition, the advancement of new-generation

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… This gene has been previously associated with spinal muscular diseases, including AMCX1 (arthrogryposis multiplex congenital X-linked type 1) and spinal muscular atrophy [ 5 ]. …

Neurologic diseases.

The responses of apparently healthy newborn foals to neurologic testing differ significantly from those of adult horses. These responses and the diagnostic techniques pertinent to neurologic problems are reviewed as a basis for evaluation of the compromised neonatal foal. The more frequently encountered neurologic diseases are discussed in a problem-oriented format. These clinical problems include behavioral abnormalities, convulsions, changes in consciousness, blindness, ataxia without loss of strength, ataxia with weakness and paralysis, and the floppy foal.

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.

Mutations in WNK1 and WNK4 cause familial hypertension, the Gordon syndrome. WNK1 and WNK4 conserved noncoding regions were targeted to polymorphism screening using DHPLC and DGGE. The scan identified an undescribed polymorphic AluYb8 insertion in WNK1 intron 10. Screening in primates revealed that this Alu-insertion has probably occurred in human lineage. Genotyping in 18 populations from Europe, Asia, and Africa (n = 854) indicated an expansion of the WNK1 AluYb8 bearing chromosomes out of Africa. The allele frequency in Sub-Saharan Africa was ~3.3 times lower than in other populations (4.8

Associated syndromes in patients with Pierre Robin Sequence.

OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital. RESULTS: 4,052 cons

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately 1 in 50. Because of gene deletion or conversion, SMN1 exon 7 is homozygously absent in approximately 94% of patients with clinically typical SMA. Approximately 30 small intragenic SMN1 mutations have also been described. These mutations are present in many of the approximately 6% of SMA patients who do not lack both copies of SMN1, whereas SMA of other patients without a homozygous absence of SMN1 is unrelated to SM

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… Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Naim Ata, Mahir Mustafa Ülgü, Ebru Dumlupinar, Suayip Birinci, Izzet Bingöl, Senol Bekmez Ankara Bilkent Children’s Hospital, Ankara, Turkey OP-96 5:13 PM–5:17 PM Increased knee range of motion in patients with arthrogryposis: minimum 2-year follow-up … Prevalence and risk factors for stiffness following open reduction for developmental dysplasia of the hip Vineet Desai, Carter Hall, Stefano Cardin, Wudbhav N Sankar Children’s Hospital of Philadelphia, Philadelphia, PA, USA OP-219 4:18 PM–4:22 PM Open reduction of hip dislocations in arthrogryposis …

Which Acetabular Landmarks are the Most Useful for Measuring the Acetabular Index and Center-edge Angle in Developmental Dysplasia of the Hip? A Comparison of Two Methods.

BACKGROUND: The acetabular index and center-edge angle are widely used radiographic parameters. However, the exact landmarks for measuring t … ocated-type DDH. We excluded patients with a hip dislocation associated with neuromuscular disease, arthrogryposis, or congenital anomalies of other organs or systems (n = 9); hips that underwent osteotomy within 1 year since closed reduction (n = 8); hips that underwent open reduction because of re-dislocation after closed reduction (n = 4); and hips with Type …

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

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