Furthermore, it demonstrates the role of renal biopsy in confirming a diagnosis in the context of AKI with multiple differential diagnoses.Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS patient from a three-generation family whose mother and maternal grandmother were asymptomatic. The proband was a 16-year-old Japanese girl with muscle weakness and continuous hypokalemic metabolic alkalosis. The patient, her mother, and her maternal grandmother were compound heterozygous for, and each expressing a different combination of, previously reported SLC12A3variants in GS patients. The mother and the maternal grandmother had no symptoms related to GS, and blood gas tests showed that the blood potassium levels and venous pH were within normal limits; however, the venous blood HCO- levels were slightly elevated. The phenotypic effect of missense mutations is difficult to evaluate, and accumulation of genotypic data with accurate phenotyping, including those of “healthy” and “asymptomatic” individuals in various ethnic populations, will improve the genetic diagnosis of GS.Tattoos may be associated with medical complications including, albeit rarely, skin cancer. The features of a 46-year-old man who developed a basal cell carcinoma within a tattoo on his left scapula are described and the characteristics of the other 13 patients (7 men and 6 women) with tattoo-associated basal cell carcinoma are reviewed. The tumor usually occurs on the sun-exposed skin of individuals aged 60 years and older whose tattoo has often been present for 20 years or more. The pathogenesis of a basal cell carcinoma developing within a tattoo may merely be a coincidence. However, there is supporting evidence that the tattoo and the subsequent basal cell carcinoma may be coincident events whereby either tattoo injection-associated trauma or the tattoo pigments and dyes (in their native state or after ultraviolet radiation alteration) or both have a carcinogenic impact on the development of the basal cell carcinoma at that location.

Gestational diabetes mellitus (GDM), a pregnancy complication, is defined as any degree of glucose intolerance with onset or first recognition during pregnancy. Vitamin D deficiency and insufficiency has recently been recognized as a contributing factor to the pathogenesis of GDM, and this link might be associated with hyperglycemia, insulin resistance, and inflammation, which are implicated in GDM.

This study aims at investigating the relationship between vitamin D, fasting plasma glucose (FPG), insulin, zinc, ferritin, and high-sensitivity C-reactive protein (CRP) in GDM.

A case-control study in which 80 women attending the antenatal clinic of University College Hospital (UCH), Ibadan, Nigeria, were recruited; the women were grouped into controls (40 nondiabetic pregnant women) and cases (40 pregnant women with GDM). Blood samples were taken at the second trimester, and metabolites were quantified by standard laboratory methods. Student’s

test and Pearson correlation were used to compare variables and determine the relationship between variables, respectively.

Results showed significant (

< 0.05) low levels of serum vitamin D and zinc, and significant (

< 0.05) higher levels of FPG and serum insulin, ferritin, and CRP in the GDM group compared to the control group. In the GDM group, a positive weak relationship was observed between vitamin D and zinc (

= 0.18,

< 0.05), while vitamin D was inversely correlated with FPG, serum insulin, ferritin, and CRP (

= -0.23, -0.21, -0.20, -0.46, respectively,

< 0.05).

This study suggests that hypovitaminosis D might be associated with glucose intolerance, insulin insensitivity, and inflammation, which are factors implicated in the development and progression of GDM.

This study suggests that hypovitaminosis D might be associated with glucose intolerance, insulin insensitivity, and inflammation, which are factors implicated in the development and progression of GDM.Congenital laryngeal stenosis is a rare and unusual anomaly that usually presents in the first minutes after delivery as severe life-threatening respiratory distress. It may exist as an isolated entity or in association with other congenital malformations, in particular cardiac anomalies. In this paper, we present the case of an infant with prenatal suspicion of tetralogy of Fallot. Immediately after delivery, the patient required intubation, which proved difficult. He was eventually diagnosed with laryngeal stenosis requiring laryngological treatment.

Duodenal duplication cysts are rare gastrointestinal tract malformations. Most patients experience symptom onset in the first decade of life. This review aims to examine clinical presentation, management strategies and outcomes of duodenal duplication cysts in childhood.

A Pubmed/Medline (http//www.ncbi.nlm.nih.gov/pubmed/) search in October 2019 for articles published since 1999 using the keywords “duodenal duplication cyst,” “child” and “newborn” was carried out. Clinical symptoms, complications, diagnostic examinations, treatment options and outcomes were analyzed and tabulated.

There were 41 citations in the literature providing adequate descriptions of 45 cases of duodenal duplication cysts. The age of presentation ranged from newborn to 18 years. The median interval between initial presentation and definitive diagnosis and treatment was 17 months (range 2 months to 12 years). Overall, 67% of cases presented with abdominal pain, and 43% were complicated with pancreatitis. Omaveloxolone Different surgical and endoscopic therapeutic strategies were reported.

Duodenal duplication cysts may be associated with life-threatening complications and/or recurrent symptoms, impairing quality of life. Early recognition of patients who demonstrate suggestive signs and symptoms is important to ensure success of treatment. This review may be useful to highlight the main diagnostic aspects and limit the risk of a delayed diagnosis.

Duodenal duplication cysts may be associated with life-threatening complications and/or recurrent symptoms, impairing quality of life. Early recognition of patients who demonstrate suggestive signs and symptoms is important to ensure success of treatment. This review may be useful to highlight the main diagnostic aspects and limit the risk of a delayed diagnosis.