Cryptosporidiosis outbreaks linked to the public water supply in a military camp, France.

Introduction: Contaminated drinking and recreational waters account for most of the reported Cryptosporidium spp. exposures in high-income countries. In June 2017, two successive cryptosporidiosis outbreaks occurred among service members in a military training camp located in Southwest France.

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension.

Background: Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritable or associated with other conditions. The aim of this study was to analyze the Endoglin (ENG) gene and assess the influence of the c.

Diagnosis and management of Paget's disease of bone.

Objective: To conduct a literature review on the diagnosis and management of Paget's disease of bone.

Materials And Methods: This scientific statement was generated by a request from the Brazilian Medical Association (AMB) to the Brazilian Society of Endocrinology and Metabolism (SBEM) as part of its Clinical Practice Guidelines program. Articles were identified by searching in PubMed and Cochrane databases as well as abstracts presented at the Endocrine Society, Brazilian Society for Endocrinology Annual Meetings and the American Society for Bone and Mineral Research Annual Meeting during the last 5 years.

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction.

We identified a new Y243S mutation in the X-linked E1 alpha-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentrations, indicating that the defect could be due to decreased affinity of PDHc for TPP.

Seasonal variation of microcystin concentrations in the Saint-Caprais reservoir (France) and their removal in a small full-scale treatment plant.

At the Saint-Caprais reservoir (France), a mono-specific bloom of Aphanizomenon flos-aquae occurs every year in the autumn months. Levels of microcystin-LR (MCYST-LR) in this reservoir were evaluated by protein phosphatase type 2A (PP2A) inhibition test as MCYST-LR equivalents in both raw and drinking water. Analysis by HPLC of the crude extract of the mono-specific bloom of A.

[Neonatal lupus erythematosus and neurologic involvement: an incidental association?].

Unlabelled: Neonatal lupus erythematosus is a rare disorder characterized by cutaneous lesions of the face and/or congenital heart block. The transplacental transfer of maternal anti-Ro/SSA, anti-La/SSB, or anti-U1RNP antibodies is responsible for the development of the disease. Few cases of neonatal lupus erythematosus with neurological involvement were reported in the medical literature.

[Botulinum toxin in the management of spastic hip adductors in non-ambulatory cerebral palsy children].

Purpose Of The Study: Spasticity of the hip adductors is a challenging problem for children with severe motor impairment due to cerebral palsy. It inhibits motor development and is also a risk factor for hip dislocation. Botulinum toxin has been found to be an effective means of treating spastic pes equinus in walking cerebral palsy patients and could have other indications.

X-linked myopathy with excessive autophagy: a clinicopathological study of five new families.

In 1988, Kalimo et al. (Ann Neurol 23 (1988) 258)described a new type of X-linked myopathy in a Finnish family. The clinical course was characterized by slow progression of muscle weakness without loss of ambulation in childhood and no evidence of cardiac, respiratory, or central nervous system involvement.

[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].

Unlabelled: Congenital cerebellar vermis hypoplasias diversely associated with retinopathy, nephropathy and hepatopathy are rare syndromes of uncertain nosology. We report three new cases.

Case Reports: Case 1.

Chronic inflammatory demyelinating polyneuropathy: immunopathological and ultrastructural study of peripheral nerve biopsy in 42 cases.

The authors recently reexamined the peripheral nerve biopsies from 42 patients with chronic inflammatory demyelinating polyneuropathy (CIDP). There were 27 males and 15 females, aged from 9 to 84 years, and 13 had relapses. No patient had vasculitis, monoclonal gammopathy, tumor, diabetes mellitus, Lyme disease, familial neuropathy, HIV, or any other immune deficiency.

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.

Multi-minicore disease (MmD) is a congenital myopathy morphologically defined by the presence of multiple small zones of sarcomeric disorganization and lack of oxidative activity ("minicores") in muscle fibers. The dinical expression of MmD is considered to be greatly variable, and the morphological lesions are nonspecific; therefore, its boundaries are poorly defined, and its molecular bases are not known. To better define the phenotypic characteristics of MmD, we analyzed a large series of 38 patients with multiple minicores in muscle fibers in the absence of any other potential cause.

Congenital insensitivity to pain with anhydrosis. Report of two unrelated cases.

Two unrelated female cases of congenital insensitivity to pain with anhydrosis are presented. The first case was born from consanguineous parents. In both cases, onset of manifestation was observed in infancy with automutilation and recurrent fever.

Schizencephaly: clinical and imaging features in 30 infantile cases.

Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible for this lesion which occurs between the third and fourth month of gestation. We report the clinical and cranial imaging features of 30 children, of whom 15 had unilateral and 15 had bilateral lesions.

Sjögren-Larsson syndrome: early diagnosis, dietary management and biochemical studies in two cases.

Background: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder with worldwide distribution. It consists of ichthyosis, spastic diplegia and mental retardation caused by an enzymatic defect in fatty alcohol oxidation.

Objective: To study the effects of dietary management on clinical outcome and plasma/red blood cell fatty alcohol and plasmalogen concentrations.

Congenital cutaneous defects as complications in surviving co-twins. Aplasia cutis congenita and neonatal volkmann ischemic contracture of the forearm.

Background: During twin pregnancies, several complications may result in the death of a co-twin depending on the date of death. We describe herein 2 infant survivors of monozygotic twin pairs with 2 distinct possible complications: a aplasia cutis congenita and Volkmann ischemic contracture.

Observations: One infant had extensive aplasia cutis congenita with an associated monozygotic co-twin who died at 3 months of gestation, and the other child had a localized arm defect due to Volkmann ischemic contracture and brain damage, with a co-twin who died at approximately 6 weeks of gestation.

[Facioscapulohumeral myopathy and germinal mosaicism].

Background: Germline mosaicism is now well known to account for recurrence of hereditary human disorders. Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder; its locus has been identified in the telomeric region of chromosome 4 at the q35 band. It appears to have a high rate of mutation.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

We report studies of four patients with pyruvate dehydrogenase complex (PDH) deficiency caused by mutations in the E1 alpha subunit. Two unrelated male patients presented with Leigh syndrome and a R263G missense mutation in exon 8. This mutation has previously been described in males with the same phenotype.

[Superior sagittal sinus thrombosis in children during the first year of life: clinical aspects, imaging and development].

Background: Thrombosis of the intracranial sinuses and veins may be septic or aseptic, and in the latter case are often due to alteration in hemodynamics. It may also be seen in young babies without known predisposing factors.

Patients: From 1988 to 1994, 11 children had cerebral venous thrombosis (longitudinal sinus) in the first year of their life.

[Schizencephaly and upper limb malformation].

Background: Schizencephaly, a failure of the cerebral mantle to form is usually unilateral and not associated with anomalies of the controlateral limbs. We present two cases associated with such anomalies.

Case Reports: Case no 1.

Phenotypic variability in van der Woude syndrome.

The association of lower lip pits with cleft lip and/or palate defines the van der Woude syndrome (VWS). VWS has an autosomal dominant mode of inheritance wiht a high penetrance and a variable expression. A gene involved in the origin of VWS is linked to loci on chromosome 1q32-q41.

Surgical treatment of an early epileptic encephalopathy with suppression-bursts and focal cortical dysplasia.

A case of early epileptic encephalopathy (EIEE) with suppression-bursts or Ohtahara's syndrome, associated with focal cortical dysplasia is reported. Infantile spasms and brief tonic unilateral seizures began on the fifth day of life. Interictal EEG demonstrated an asymmetrical "suppression-burst" pattern with no wake or sleep cycling.