Jan René Nkeck

Genetic analysis for rs2280205 (A>G) and rs2276961 (T>C) in SLC2A9 polymorphism for the susceptibility of gout in Cameroonians: a pilot study

ObjectiveTo determine the association of non-synonymous variants rs2280205 and rs2276961 of the SLC2A9 gene to gout in Cameroonians.ResultsIn a case–control study including 30 patients with acute gout matched to 30 healthy volunteers. We searched for polymorphism of the targeted variants using Restriction Fragment Length Polymorphism following polymerize chain reaction. Fisher exact test and Student t-test were used to compare variables, with a threshold of significance set at 0.05. The mean age of participants was 58u2009±u20098xa0years with 28 (93%) males. The family history of gout was found in one-third of the cases (pu2009>u20090.05). Uricemia was higher in cases than controls (pu2009<u20090.001) but 24xa0h urate excretion was similar in both groups (pu2009>u20090.05). Ancestral alleles (G and C) and their homozygous genotypes (GG and CC) of the targeted variants were predominant in both groups (pu2009<u20090.001). The polymorphisms of targeted variants were not associated with gout, and do not influence uric acid concentration in blood and urine. Non-synonymous variants rs2280205 and rs2276961 are not associated with gout in Cameroonians. However, the hereditary component of the disease suggests the influence of other genetic and/or environmental factors.

Autosomal Dominant Lamellar Ichthyosis in a Cameroonian Family

Ichthyosis encompasses genetic disorders linked to disorders of skin differentiation, but can also be acquired. Neonatal Congenital Ichthyosis which, major risk is predisposition to infections due to inefficient cutaneous barrier, has many sub-type including lamellar Ichthyosis. Although the most described mode of inheritance is the recessive one, few cases of Autosomal Dominant Lamellar Ichthyosis (ADLI) are encountered in literature. Here we describe a similar mode in a Cameroonian family.

The Fatal Outcome of a Child with a Delayed Posterior Urethral Valve Diagnosis in a Low Income Country: A Case Report and Take Home Messages

Introduction: When faced with early urinary tract infections in infants, there is a need to do diagnostic imaging to exclude urinary tract malformations. Delayed diagnosis of this condition could lead to serious complications. Case presentation: We received a 2 months old male infant referred for better management of an acute kidney injury (AKI) with septicemia. He had a past medical history of febrile urinary tract infection. Our diagnosis was that of acute kidney injury and septicemia associated to a posterior urethral valve. The initial treatment included broad spectrum antibiotics, management of AKI complications and vesicostomy to relief the urinary obstruction prior to valve ablation. We unfortunately lost the infant on day 3 following surgery from severe refractory hyperkalemia and a uremic syndrome. Conclusion: This case is a call to clinicians attention in low income countries to always check for urinary tract malformations when confronted with an infant presenting a febrile urinary tract infection.

Giant Condylomata Acuminata of Buschke and Lowenstein in a Young Cameroonian

A 20 years old man presented with a budding swelling which started on his glans penis as a wart 4 years ago and then gradually spread over the inguinal regions, initially appearing as condylomata acuminata and then progressing to moderately painful cauliflower lesion with no notion of fever (Figure 1). He regularly applied traditional decoctions without effect on the tumor. He has been sexually active from the age of 15 and practices unprotected sex. His HIV, viral hepatitis B and C and syphilis serologies were negative. No history of chronic inflammation of that region, immunosuppression factors in him or his family or history of STIs were found. The management was surgical with complete removal of the budding lesions whose pathological analysis concluded on a “Giant condyloma acuminatum”. Isolated and recurrent warts were treated with podophyllin following the surgery. The evolution was favourable after 1 year. He is however regular followed-up every 6 months to assess relapse.

Massive Vulvar Edema Complicating a Severe Preeclampsia with Intrauterine Fetal Death

Gestational hypertensive diseases, including preeclampsia, are frequently associated to a poor prognosis when they are severe, with maternal or fetal death, and especially in low resource settings. Early recognition of severity signs can help to prevent maternal and/or fetal complications. Aside classically described signs, some others, such as vulvar edema, have been put in light through case reports and case series. Here we describe the case of a Cameroonian pregnant woman, who presented severe preeclampsia with massive vulvar edema.