FERMT1 promoter mutations in patients with Kindler syndrome.

Mutations in the FERMT1 gene, encoding the focal adhesion protein kindlin-1 underlie the Kindler syndrome (KS), an autosomal recessive skin disorder with a phenotype comprising skin blistering, photosensitivity, progressive poikiloderma with extensive skin atrophy, and propensity to skin cancer. The FERMT1 mutational spectrum comprises gross genomic deletions, splice site, nonsense, and frameshift mutations, which are scattered over the coding region spanning exon 2-15. We now report three KS families with mutations affecting the promoter region of FERMT1. Two of these mutations are large deletions (∼38.0 and 1.9 kb in size) and one is a single nucleotide variant (c.-20A>G) within the 5' untranslated region (UTR). Each mutation resulted in loss of gene expression in patient skin or cultured keratinocytes. Reporter assays showed the functional relevance of the genomic regions deleted in our patients for FERMT1 gene transcription and proved the causal role of the c.-20A>G variant in reducing transcriptional activity.

Functional disomy of Xp: prenatal findings and postnatal outcome.

We report on trisomy of the short arm of the X chromosome (Xp11.2 --> pter) due to a de novo unbalanced X;13 translocation diagnosed prenatally in a female fetus. Amniocentesis was performed at 20-weeks' gestation following ultrasound finding of a Dandy-Walker malformation. The trisomy of Xp11.2 --> pter was confirmed with fluorescence in situ hybridization (FISH), using an X chromosome painting probe and telomeric FISH probes specific for the short arm of chromosome X. The karyotype was defined as 46,XX,der(13)t(X;13)(p11.2;p11.2). Molecular analysis suggested that the extra Xp material was of paternal origin. FISH analysis with an XIST probe showed that the derivative chromosome 13 did not include the XIST locus at the X-inactivation center (XIC). A complex phenotype was seen at birth including macrosomia, facial dysmorphism with preauricular tag, congenital heart defects, and structural brain malformations. Because the derivative chromosome was not subject to X inactivation, functional disomy of Xp11.2 --> pter most likely accounts for the abnormal phenotype in this patient.

Asian paralysis syndrome.

We report 20 children admitted to the paediatric ward of a public general hospital for acute flaccid paralysis, which was bilaterally symmetrical in all cases and was associated with bulbar involvement in eight of them. Recovery was partial. Nerve conduction studies showed motor axonal neuropathy. This new disease, variously termed as non-inflammatory neuropathy/Chinese paralysis syndrome must be differentiated from Guillain-Barré syndrome (GBS) and poliomyelitis. Both GBS and Asian paralysis syndrome have bilaterally symmetrical flaccid paralysis but GBS tends to have sensory involvement, full recovery occurs in 90% of cases and nerve conduction shows demyelinating neuropathy. Asian paralysis syndrome and poliomyelitis are pure motor lesions without sensory changes and partial recovery, but poliomyelitis differs in that paralysis is asymmetrical and unequal, muscle spasm is always present in the initial stage and there are prodromal symptoms. Nerve conduction studies show anterior horn cell disease. This new entity, common in Asian populations, assumes public health importance when it mimics poliomyelitis in a country that has tried to eliminate poliomyelitis by universal immunization. To the best of our knowledge, this is the first report of Asian paralysis syndrome in children in our area.

Fetal hydantoin syndrome with rheumatic valvular heart disease.

Research has shown that anticonvulsants are teratogens and pose a risk for fetal malformations. Though Fetal Hydantoin Syndrome (FHS) was first reported by Langhman and others, wide phenotypic variability of this syndrome has lead many clinicians to question its very existence. We report a twelve year old girl with FHS with rheumatic valvular heart disease.

Early predictors of neurodevelopmental outcome in high risk infants.

OBJECTIVE: To find out a few simple and easily elicitable items at three and six months of age that can predict neurodevelopmental outcome at one year in high risk babies. DESIGN: One year longitudinal follow up study. SETTING: Hospital based study including inborn and outborn infants discharged from the Neonatal Intensive Care Unit (NICU) of a referral hospital, followed up in a High Risk Clinic. METHODS: Sixty high risk babies were followed up longitudinally for a period of one year. A detailed neurodevelopmental examination was done with special attention to the following items-axillary suspension, head support, social smile, disappearance of primitive reflexes and neurobehavior at three months age while pull to sit, rolling over, sitting momentarily without support, transfer of objects and voluntary reach were evaluated at six months age. Bayley Scales of Infant Development (Baroda Norms) was used for assessing the outcome at one year. RESULTS: Babies with absence of social smile, abnormal neurobehavior at three months and absent pulling to sit position, absent voluntary reach, and absent transfer of objects, remained delayed at one year. The specificity of each of these items was 100%. These items had a positive predictive value of 100%. CONCLUSIONS: Inability to achieve social smile and abnormal neurobehavior at three months age and absence of pulling to sit position, transfer of objects and voluntary reach at six months age, warrant early intervention. These items are easy to elicit, do not require any special kit or elaborate training. Hence these items can be tested even by those working at the primary level or in office practice.

A head-injured patient: caloric needs, clinical progress and nursing care priorities.

This case study explored literature on nursing care of the head-injured patient and identified outcomes of a head-injured patient in regard to nutritional status, skin breakdown and infection. Literature review revealed head-injured patients experience a hypermetabolism requiring increased nutritional support. Patient outcomes included mild skin breakdown, infection and a 12% loss in body weight. Inadequate nutrition was the patient's most significant outcome. The patient maintained an average daily intake of 915 calories and averaged a total energy expenditure of 2337 calories, thus, demonstrating an average daily deficit of 1422 calories. Top nursing care priorities noted in the patient's chart were: alteration in cerebral tissue perfusion, potential for injury and alteration in skin integrity. Results indicated more accurate assessment of the patient's needs and inclusion of more applicable nursing diagnoses were required to ensure greater continuity in care.