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Familial risk of cerebral palsy: population based cohort study.

OBJECTIVE: To investigate risks of recurrence of cerebral palsy in family members with various degrees of relatedness to elucidate patterns … ed first cousin, only weak evidence existed for an increased risk (1.5 (0.9 to 2.7)-fold). Risks in siblings or cousins were independent of sex of the index case. After exclusion of preterm births (an important risk factor for cerebral palsy), familial risks remained and were often stronger. CONCLUSIONS: People born into families in which someone already …

Behaviors associated with ultraviolet radiation exposure in a cohort of adult survivors of childhood and adolescent cancer: a report from the Childhood Cancer Survivor Study.

BACKGROUND: Previous research from the Childhood Cancer Survivor Study (CCSS) has shown that risk of skin cancer is strongly associated with … at follow-up was 31 years (range, 17-54). RESULTS: In this cohort, childhood cancer survivors and siblings showed similar patterns of sunscreen use (67% vs 66%). Survivors were significantly less likely to report having sunbathed in the previous year (none vs any in previous year: relative risk (RR)=0.92; 95% confidence interval (CI)=0.89-0.95) or use ar …

Hematopoietic cell transplantation for correction of primary immunodeficiencies.

The first hematopoietic cell transplants in humans with durable success were reported in 1968, in three patients with primary immunodeficiencies who received grafts from HLA-matched siblings (two with SCID and one with Wiskott-Aldrich syndrome). Significant progress has been made in correcting lethal primary immunodeficiencies (PIDs) with hematopoietic transplantation in the ensuing 40 years due to several factors: (1) ability to phenotype and quantitate (CD34+) hematopoietic stem cells, (2) advent of high-resolution tissue typing, (3) availability of closely matched unrelated donor bone marro…

Colonic and duodenal flat adenomas in children with classical familial adenomatous polyposis.

Flat adenomas of the colon and duodenum have been described as associating with familial adenomatous polyposis (FAP), its attenuated variant, and the so-called hereditary nonpolyposis colorectal cancer. There seem to be no report on the occurrence of flat adenomas in pediatric patients with family history of FAP. We are reporting 4 children from 2 cancer-prone families in whom colonic and duodenal moderately dysplastic flat adenomas were found. Gastrointestinal endoscopy and biopsies were performed in 3 female siblings (7, 9, and 11 years old) and 1 male (9 years old) when referred for screeni…

Novel Cardiocerebral Channelopathy Associated with a KCND3 V392I Mutation.

While a KCND3 V392I mutation uniquely displays a mixed electrophysiological phenotype of Kv4.3, only limited clinical information on the mutation carriers is available. We report two teenage siblings exhibiting both cardiac (early repolarization syndrome and paroxysmal atrial fibrillation) and cerebral phenotypes (epilepsy and intellectual disability), in whom we identified the KCND3 V392I mutation. We propose a link between the KCND3 mutation with a mixed electrophysiological phenotype and cardiocerebral phenotypes, which may be defined as a novel cardiocerebral channelopathy.

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

We report a family of Saudi Arabian ancestry with two children presenting with global developmental delay, dystonia, disturbed sleep, and heat intolerance. By genome sequencing, we identified a nonsense variant in the first exon of PI4K2A that was homozygous in both affected individuals and was absent from, or heterozygous in, seven unaffected siblings. PI4K2A is highly expressed in the brain and a mouse model displays a neurological phenotype, implicating PI4K2A as a new disease gene for a neurological disorder.

Administrative Data to Explore the Role of Family History as a Risk Factor for Herpes Zoster.

We used administrative data to study the impact of family history on the risk of herpes zoster (HZ). Our HZ cases and our HZ family history were both ascertained on the basis of medically attended diagnoses, without reliance on self-report or recall bias. Family history was associated with HZ risk among both siblings and parents. The strength of the association differed when the index child was latently infected with vaccine-strain vs wild-type varicella zoster virus.

Pleiotropic effect of a novel mutation in GCNT2 causing congenital cataract and a rare adult i blood group phenotype.

Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Joubert Syndrome (JS) is an inherited ciliopathy associated with mutations in genes essential in primary cilium function. Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA. Affected siblings present a mild and classical form of Joubert syndrome allowing for further delineation of the JS associated genotypic spectrum.

Osteomesopyknosis--a benign axial hyperostosis that can mimic metastatic disease.

We report two cases of an axial osteosclerosis with histopathologic findings of osteomesopyknosis in siblings. Osteomesopyknosis is a benign hereditary osteosclerosis that can show a radiologic pattern similar to blastic metastatic disease. The aim of this article is to inform radiologists about the existence of this benign condition and its various radiologic manifestations. Therefore, we discuss the principal differential diagnosis and point out the key imaging findings of osteomesopyknosis in order to avoid overdiagnosis in future cases.

Инфекция у пациента с адаптивным протеином BLNK.

Белок B-клеток (BLNK) — молекула адаптационного устройства в сигнальном траектории, активируемая (перед) сигналами антигенного рецептора. Мы представляем двух братьев и сестер с гомозиговой вредоносной мутации в BLNK, что приводит к блоку развития клеток B в костном мозге на стадии до B1 до стадии до B2, отсутствия циркулирующих клеток B и агаммаглобулинемии. Это первое описание инфекционной инфекции, связанной с артритом и дерматитом у пациента с дефицитом BLNK.

Совпадение в аннотации оригинала
B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglo…

[Two pairs of brothers with juvenile idiopathic arthritis (JIA): case reports].

This is a case report of juvenile idiopathic arthritis (JIA) in two pairs of brothers followed in the department of pediatric rheumatology, Universidade Federal da Bahia. Genetic involvement in JIA pathogenesis is clear and the risk of recurrence among siblings supports this contribution. An important landmark of this discovery involves the acknowledgment of major histocompatibility complex (MHC) polymorphism contribution to JIA development susceptibility. Despite many advances, the numerous available studies cannot explain several implicit mechanisms in JIA pathogenesis yet.

Asyndromic bilateral transverse facial cleft.

Bilateral transverse facial cleft, Tessier no 7 also known as bilateral congenital macrostomia are very rare clefts. We present an eight months old female with bilateral transverse facial cleft, third child of three siblings in a monogamous setting born to parents of Delta origin who resides in effurun Delta state of Nigeria. Mother ingested postinor several times in an attempt to abort pregnancy. Pregnant women should be encouraged to have adequate folic acid diet or supplements.

[Clinical management of homocystinuria: case report and review of the literature].

Homocystinuria is a congenital disorder of methyonine metabolism that leads to increased plasmatic, urinary and tissue deposits of methyonine and its main metabolite: homocysteine. Homocysteine deposits are toxic for the skeletal system (osteoporosis), the eyes (lens dislocation), central nervous system (seizures, psychiatric disorders) and also induce vascular damage (stroke and other cardiovascular events). This article reports two patients with homocystinuria in two siblings, followed by a concise review on the therapeutic strategies available for this disorder.

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception.

Abnormal ocular electrophysiology in Sjögren-Larsson syndrome.

Two siblings who were born out of consanguineous marriage in an Indian family and had typical clinical manifestations of Sjögren-Larsson syndrome were found to have normal electroretinogram and abnormal visual evoked potential results. Abnormal visual evoked potential results along with the presence of distinctive foveal and parafoveal deposits, which could have a prognostic bearing on the visual acuity of the patients, emphasize the importance of a complete ophthalmological and electrophysiological evaluation in all patients with Sjögren-Larsson syndrome.

Gastroschisis with jejunal and colonic atresia, and isolated colonic atresia in dichorionic, diamniotic twins.

Despite the increasing incidence of gastroschisis, the cause remains unknown. Genetic factors may contribute to bowel anomalies as demonstrated by cases of gastroschisis in twins and siblings, and other types of bowel anomalies in twins. Atresia of the colon represents one of the rarest causes of neonatal intestinal obstruction. We present the first case of dichorionic, diamniotic male twins in which there was gastroschisis with jejunal and colonic atresia in Twin A and isolated colonic atresia in Twin B.

Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.

Two siblings with ataxia with oculomotor apraxia type 2 (AOA2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. Genetic analysis disclosed a novel, homozygous frameshift mutation in the senataxin gene, 2755_2756delGT, responsible for a premature stop codon at position 2760. It is suggested that a neuronopathy might cause the neuromuscular disturbance in AOA2, and that ovarian failure should be looked for in female patients with the disease.

Housing and husbandry conditions affect stereotypic behaviour in laboratory gerbils.

An artificial burrow was developed which fits into standard laboratory cages and significantly reduces stereotypic digging in gerbils. Also, the causes of bar-chewing were assessed experimentally. Neither the lack of gnawing material, nor the spatial proximity of cage-lid bars and food in the hopper nor the routine husbandry procedure of transferring juvenile gerbils to a fresh cage, but premature separation of juvenile gerbils from their parents before the birth of younger siblings significantly increased bar-chewing.

Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases.

We describe 3 children (2 siblings aged 10 and 3 years, and 1 sporadic case aged 13 years) with cerebellar vermis defect associated with oligophrenia, congenital ataxia, and hepatic fibrocirrhosis. Differently from what is reported in COACH syndrome, coloboma and renal involvement were absent. Since in one patient hepatic involvement was subclinical and early therapy seemed to prevent disease progression, the presence of liver disease should be carefully investigated in any patient with ataxia and midline cerebellar defects.