Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Intracellular cobalamin metabolism (ICM) defects can be present as autosomal recessive or X-linked disorders. Parenteral hydroxocobalamin (P-OHCbl) is the mainstay of therapy, but the optimal dose has not been determined. Despite early treatment, long-term complications may develop.

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Background: Primary coenzyme Q10 (CoQ10) deficiencies are heterogeneous autosomal recessive disorders. CoQ2 mutations have been identified only rarely in patients. All affected individuals presented with nephrotic syndrome in the first year of life.

Clinicopathological study of primary gastric lymphomas in the central region of Tunisia, with survival analysis.

Background: Primary gastric lymphomas (PGL) are rare and represent only 5% of gastric malignancies, but are apparently increasing in incidence worldwide. Optimal treatment of PGL remains controversial. The aim of this study was to evaluate clinicopathological characteristics, prognostic factors, survival rates, and treatment modalities in Tunisian patients with PGL.

[Granulocytic sarcoma in the mandibular gingiva of an HIV+ patient].

Introduction: The association between malignant tumors and HIV infection is well known. We report a rare case of gingival granulocytic sarcoma (GS) associated to HIV infection.

Observation: A 31 year-old HIV patient consulted for left maxillary tumefaction.

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

Townes-Brocks syndrome is an autosomal dominantly inherited disorder, which comprises multiple birth defects including renal, ear, anal, and limb malformations. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator SAL of Drosophila melanogaster. The SALL1 gene product is a zinc finger protein thought to act as a transcription factor.