The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Introduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH.

Behavioral Health Workforce Development in the era of COVID-19: Examples From a State-Funded Intermediary Organization.

Intermediary and purveyor organizations (IPOs) play a key role in disseminating and implementing behavioral health evidence-based practices. The COVID-19 pandemic created a time of crisis and disruption to behavioral health care delivery. Using the conceptual framework of basic, targeted, and intensive technical assistance (TA) from the Training and Technology Transfer Centers, case studies are used to describe how programs at The Center for Practice Innovations a state funded-intermediary organization, adapted its training and technical assistance to be delivered entirely remotely, to include content related to COVID-19 and to provide guidance on telehealth-based behavioral health care.

[Macrophage activation syndrome and Kawasaki disease: Four new cases].

Macrophage activation syndrome (MAS) is a rarely reported complication of Kawasaki disease (KD). It must be sought during KD with unusual clinical signs, such as enlargement of the liver or spleen, cytopenia (including thrombocytopenia), and elevated serum triglycerides. Here, we report four cases from a single center.

Adoption of a Blended Training Curriculum for ACT in New York State.

Scant evidence exists in the literature for best practices in training assertive community treatment (ACT) teams to deliver highly effective services to consumers. This column describes a blended training curriculum, which includes both face-to-face and distance learning strategies, developed by the ACT Training Institute in New York State to meet the ongoing training needs of teams across New York State. Data on training uptake, which has steadily increased over time, are reported.

[Ecstasy poisoning in a 10-month-old infant].

Unlabelled: We describe an accidental ecstasy poisoning in a 10-month-old girl.

Case Report: A 10-month-old infant suddenly exhibited behavior disorders with restlessness, hypertonia, and repetitive movements. She was immediately taken to the Emergency Department.

Epstein-Barr virus-associated Kikuchi disease in two children.

The authors describe two children with Kikuchi necrotizing lymphadenitis, the main manifestations of which were cervical lymphadenopathy, fatigue, and fever. The diagnosis was based on histopathologic findings after open biopsy. Results of serologic studies, immunoperoxidase staining for Epstein-Barr virus (EBV) latent membrane protein, in situ hybridization for Epstein-Barr encoded RNAs, and polymerase chain reaction amplification of EBV Epstein-Barr nuclear antigen-1 (EBNA) DNA suggested that EBV was the causative agent in both patients.

[Hereditary neuropathy with tendency to pressure palsies (HNPP) in a child: clinical and biological diagnosis. A case report].

Unlabelled: HNPP occurs rarely but not exceptionally during childhood.

Case Report: José M., seven years old, presented an isolated radial nerve palsy of progressive onset with no other clinical feature.

[Hepatic abscess due to Yersinia in a child with thalassemia].

A 15-year-old boy with thalassaemia major treated with desferrioxamine, experienced fever associated with digestive disorders. These symptoms led to the discovery of multiple liver abscesses. Therapy included antibiotics (third generation cephalosporin and aminoglycoside) and desferrioxamine discontinuation.

[Peri-ungual capillaroscopy in pediatric practice].

Nailfold capillaries may be visualized in vivo using a simple non invasive microscopic technic. The assessment of capillary flow disturbances and organic microangiopathies is therefore rendered possible through capillary microscopy. Three kinds of clinically significant morphological abnormalities can be easily recognized: megacapillaries are huge capillaries with a diameter greater than 50 microns.

[Acute chorea, systemic lupus erythematosus and antiphospholipid antibodies. Apropos of a case].

A case of acute chorea in a 10 years old girl complicating a systemic lupus erythematosus associated with antiphospholipid antibodies is reported. The lupus anticoagulant was detected with a coagulation assay and the false serological reaction for syphilis by the RPR test. The child recovered with Prednisone therapy.

[Lipoprotein lipase deficiency. Apropos of 2 cases].

Lipoprotein-lipase deficiency is an uncommon disease, inherited as an autosomal recessive pattern. The authors report two cases: the first one is a fourteen years old girl. It is revealed by abdominal pain; the diagnosis is detected by a milky plasma and confirmed by the enzyme activity which is dramatically decreased; the other one is a seven year old boy, who shows several pancreatitis but in whom the enzyme activity is not so low, perhaps because of genotypical difference.

[Acute hemorrhagic edema in infants: role of adenoviruses? Apropos of a case].

A case of acute hemorrhagic oedema of the skin is reported. About it we discuss: Anatomo-clinical data, similar to immune complex type III hypersensitivity vasculitis. Antigen has never been defined.

[Extrinsic allergic alveolitis in children. Apropos of 4 cases].

Four cases of extrinsic allergic alveolitis are reported. About them, we discuss: The difficulties of diagnosis that we can only affirm on the association of several clinical, biological, and radiological arguments. The physiopathology: association of immune complex hypersensitivity type III and immediate hypersensitivity type I.

[A case of acute reversible dysautonomia in an adolescent].

A 16 years old male presented with orthostatic hypotension with constant pulse, associated with severe constipation, decrease of sudoral secretions, weight loss and asthenia. This dysautonomia evolued during a period of 6 months and disappeared completely leaving no sequellaes. The symptoms appeared after a rubella.