Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.

Background: Xp21 contiguous gene deletion syndrome is a rare genetic metabolic disorder with poor prognosis in infants, involving deletions of one or more genes in Xp21. When deletions of adrenal hypoplasia (AHC), Duchenne muscular dystrophy (DMD), and chronic granulomatosis (CGD) loci are included, complex glycerol kinase deficiency (CGKD) can be diagnosed. We present a case of CGKD that was initially misdiagnosed and died during treatment in our hospital in terms of improving our understanding of the clinical features and diagnosis of this disease, as well as highlighting the need for more precise dosing of corticosteroid replacement therapy.

A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth restrictions, microcephaly, skeletal dysplasia, severe teeth deformities, and typical facial features. Previous studies have shown that MOPD II is associated with mutations in the pericentrin (PCNT) gene.

Methods: We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II.

Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.

Introduction: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis.

Material And Methods: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD.

Results: Excessive accumulation of amniotic fluid was observed during pregnancy.

Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.

Introduction: To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the prognosis.

Material And Methods: By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD.

Results: Excessive accumulation of amniotic fluid was observed during pregnancy.

[An investigation of ketoacidosis in children with newly diagnosed type 1 diabetes].

Objective: To investigate the incidence of diabetic ketoacidosis (DKA) in children with newly diagnosed type 1 diabetes.

Methods: A retrospective analysis was performed for the clinical data of 224 children with newly diagnosed type 1 diabetes, and according to the presence or absence of DKA, these children were divided into DKA group and non-DKA group, with 112 children in each group. The DKA group was further divided into ≥5-year group (65 children) and <5-year group (47 children), and according to the blood gas parameters, this group was divided into mild group (26 children), moderate group (29 children), and severe group (57 children).

The therapeutic effects of acupuncture on patients with chronic neck myofascial pain syndrome: a single-blind randomized controlled trial.

Chronic neck myofascial pain syndrome (MPS) is a common disorder seen in clinics. There is no gold standard method to treat myofascial pain. We investigated the effects of acupuncture on patients with chronic neck MPS by a single-blind randomized controlled trial.

Hypothyroidism and cerebral infarction: a case report and literature review.

Thyroid hormone has been studied in cardiovascular disease but rarely in cerebrovascular disease (CVD). Recently, hypothyroidism has been suggested to be related to risk factors such as atherosclerosis but not directly to CVD. We reported a 52-year-old woman with acute ischemic stroke, and greatly improved general conditions after thyroid hormone replacement.