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Biomedical subjects

A Patrick

Publications and source records attributed to A Patrick.

6 recordsLinked to original sources
PubMed1992

Renal acidosis, thyroiditis, hemolytic anemia: an autoimmune link?

Distal renal tubular acidosis (DRTA) is characterized by a urine of inappropriately high pH in the presence of a metabolic acidosis. Female patients with DRTA may have associated autoimmune disorders. We have described a patient with DRTA, followed by acute thyroiditis and autoimmune hemolytic anemia within 2 years. This combination of autoimmune diseases has not been described previously. These conditions are likely linked by an autoimmune pathogenesis. Clinicians are advised that some patients with DRTA may subsequently have features of any autoimmune disorder as the natural history of the disease.

Acidosis, Renal Tubular↗
PubMed1987

A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance.

We describe three male fetuses with a lethal multiple pterygium syndrome (LMPS). The family was ascertained when the first pregnancy of healthy, unrelated Scottish parents ended with a miscarriage at 23 weeks gestation. The macerated male fetus had a cystic hygroma, cleft palate, and webbing of the neck, elbows, and thighs. Radiographs showed lack of modeling of long bones, with broad ribs and clavicles, hypoplastic radii and ulnae, abnormal jaw angle, and dislocated femoral heads. Two other fetuses with similar anomalies were born to a first cousin of the propositus. These three male fetuses with a similar lethal multiple pterygium syndrome born to mothers who are second-degree relatives through the female line suggest X-linked recessive inheritance of LMPS in this family.

Abortion, Induced↗