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Drug-induced liver injury (DILI) represents liver damage from various therapeutic drugs. Antimicrobials are among the most common causes of DILI. We report a case of hepatic toxicity due to Trimethoprim-sulfamethoxazole (TMP-SMX) in a patient who underwent renal transplantation. Diagnosis has been made after a careful history taking, exclusion of competing etiologies and reversal of biochemical abnormalities after withdrawal of the antibiotic. TMP-SMX liver toxicity is well known but remains unpredictable and is rarely reported.

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Members of the transmembrane emp24 domain (Tmed)/p24 family of proteins are required for transport of proteins between the endoplasmic reticulum and the Golgi. One member of this family, Tmed2/p24ß1, is expressed during placental development in mice and its expression is required for normal development of the labyrinth layer. Although TMED2 is conserved in humans, little is known about its expression and function in human placenta. We examined TMED2 expression in human placenta between 5.5 and 40 weeks of gestation and showed that TMED2 is expressed in syncytiotrophoblast, cytotrophoblast, and stromal cells. We also found high levels of TMED2 expression in BeWo but not in JEG-3 choriocarcinoma cell line. We used the BeWo cell line to determine TMED2 subcellular localization in placental cells and show its co-localization with the endoplasmic reticulum Golgi intermediate compartment. Our findings show conservation of TMED2 expression in human placenta and suggest that this protein may also play a role during placental development in humans.

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To understand the mechanisms leading to hydatidiform mole formation in patients with NLRP7 mutations, we used a combination of various approaches to characterize five products of conception, from two patients, shown by flow cytometry to contain non-diploid cells. We demonstrate that four of these conceptions are triploid and two of them originated from fertilization with more than one sperm. We show that three of these triploid conceptions fulfill the histopathological criteria of partial hydatidiform mole and one fulfills the histopathological criteria of spontaneous abortion. Our data demonstrate that some oocytes from one patient with NLRP7 mutations are not able to prevent polyspermic fertilization and highlight the importance of using several approaches to characterize the genetic complexity of molar tissues and reproductive wastage. Altogether, our previous and current data show the association of NLRP7 mutations with several types of hydatidiform moles and with triploid spontaneous abortions.

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Alpha-methyldopa is one of the most widely prescribed antihypertensive agents used during pregnancy. Despite its known potential hepatotoxicity, there have been only a few reports describing hepatotoxicity with the use of this drug during pregnancy. We report here a new case of acute hepatitis in a pregnant woman related to the use of alpha-methyldopa, and briefly review the literature on alpha-methyldopa-induced hepatotoxicity in pregnancy.

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Hydatidiform mole (HM) is a human pregnancy with no embryo but cystic degeneration of chorionic villi. The common form of this condition occurs in 1 in every 1500 pregnancies in western societies and at a higher incidence in some geographic regions and populations. Recurrent moles account for 2% of all molar cases and a few of them occur in more than one family member. By studying a familial form of recurrent moles, a recessive maternal locus responsible for this condition was mapped to 19q13.4 and causative mutations identified. The defective protein, NALP7, is part of the CATERPILLAR protein family with roles in pathogen-induced inflammation and apoptosis. The exact role of NALP7 in the pathophysiology of molar pregnancies is unknown yet. NALP7 could have a role either in oogenesis or in the endometrium during trophoblast invasion and decidualization. In this review, we outlined recent advances in the field of HMs and reviewed the literature in the light of the new data.

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The killer immunoglobulin-like receptors are a highly polymorphic family of receptors encoded by 15 genes clustered on 19q13.4. Because of the complexity of the genetic analysis of the KIR cluster, much of the data regarding KIR sequences and alleles has been generated by cDNA typing and partial sequencing. Here we report the genomic sequencing of the KIR genes in individuals with three different haplotypes homozygous by descent. We provide a detailed analysis of their haplotypes and identify new alleles for KIR3DL3 and KIR2DL1. The primers we describe will be a valuable tool for studying the involvement of the KIR genes in various human diseases.

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Imprinting is the uniparental expression of a set of genes. Somatic cells carry two haploid sets of chromosomes, one maternal and one paternal, while germ cells contain only one of the two forms of chromosomes, male or female. This implies that during early embryogenesis the cells committed for developing the future germ cell lineage, the primordial germ cells, which are diploid, have to undergo a total chromosome reprogramming process. This process is delicately controlled during gametogenesis to ensure that males and females have only their respective form of gametes. The machinery involved in this process is yet poorly defined. Familial hydatidiform molar (HM) pregnancy is an abnormal form of pregnancy characterized by hydropic degeneration of placental villi and abnormal, or absence of, embryonic development. To date, the molecular defect causing this condition is unknown. However, in a few studied cases, the presence of paternal methylation patterns on the maternal chromosomes was observed. In this chapter, we summarize what is known about methylation aberrations in HMs and examine more closely the proposed hypothesis of a maternal germline imprinting defect.

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The fatty acids 17,18-dihydroxyoctadeca-9,11,13,15-tetraynoic acid (mkiluaynoic acid A) and 18-hydroxyoctadeca-9,11,13,15-tetraynoic acid (mkiluaynoic acid B), 5,7,3',4'-tetrahydroxyflavanol, 3,4-dihydroxybenzoic acid and a mixture of stearic and oleic acids were isolated from fruits and stem barks of Mkilua fragrans (Annonaceae). Mkiluaynoic acid A exhibited antifungal activity against Candida albicans comparable with that of the standard antifungal agent Ketoconazole. Structural determination was achieved by analysis of spectroscopic data. The flower stalks yielded essential oils that mainly consisted of sesquiterpenoids as revealed by GC-MS analysis, whereby 14 sesquiterpenes and four other compounds were identified.

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OBJECTIVES: Intra osseous lipomas are rare benign tumours that occur most frequently within the metaphysis of long bones. Involvement of the skull base is exceptional. We report a case of a lipoma of the skull base discovered incidentally. METHODS: A 45 year-old female patient consulted for galactorrhea with Hyperprolactinemia. RESULTS: MRI showed, in addition to the microadenoma, a high signal intensity T1 and T2 and fat saturated expansive lesion of the body and the right greater wing of the sphenoid. CT-scan of the skull base showed that this lesion was a well circumscribed fat containing and trabeculated lytic lesion leading to the diagnosis of a lipoma of the sphenoid. CONCLUSIONS: Lipomas of the skull base are exceptional. They are well recognized on CT-scan and MRI and in typical cases biopsies are not necessary. No treatment is necessary for asymptomatic lesions.

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We previously mapped a maternal recessive locus responsible for familial hydatidiform moles (HMs) to 19q13.4. The candidate region has recently been narrowed down to 1.1 megabases. Here, we report the segregation of alleles at 18 genetic markers, including nine new ones, from the HMs candidate region in a recently reported consanguineous family. In this family, five affected women had a total of seven HMs, three miscarriages, and three normal children. Linkage and haplotype analyses exclude linkage to 19q13.4 and indicate the presence of a second recessive locus responsible for familial molar pregnancies. The heterogeneity in the phenotype of the conceptuses of patients with familial HMs is in agreement with previous observations and seems to be a common feature of this condition. This indicates that the homozygous genetic defects leading to hydatidiform moles can be modulated by other genetic or environmental factors. The identification of these factors may unravel natural ways to treat these forms of reproductive wastage and reverse the infertility of women with recurrent moles.

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Lymphoepithelial cyst of the pancreas is a benign and rare pathology. Its histogenesis is still unknown. The diagnosis is difficult to establish before surgery. We report a new case of a 20-year-old woman admitted for abdominal pain and vomiting. Radiologic investigations described a multilocular cystic tumor of the tail of the pancreas. The patient underwent a left pancreatectomy with splenectomy. Histologic investigations revealed pancreatic cysts lined by squamous epithelium surrounded by dense lymphoid tissue. The diagnosis of lymphoepithelial cyst of the pancreas was done.

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The authors report a case of cervico-thoracic region hydatid cyst suspected by the presence of a palpable right lower neck mass. This location is very rare. Neck ultrasound and computed tomography showed the cyst. Magnetic resonance imaging can be useful for diagnosis and provided the best anatomo-topographic evaluation before surgery.

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Although rare, the possibility of pituitary tuberculoma should be considered in the diagnosis of non-pituitary intrasellar masses, especially in an endemic area and if radiologic imaging shows pituitary stalk thickening. We describe the case of a 52-year-old patient who presented tuberculous meningitis complicated by a pituitary abscess. He was treated with antituberculous drugs. The follow-up MRI 16 and 48 months later showed the decreased size of the pituitary mass. Radiological features and a review of the literature of pituitary tuberculoma are briefly discussed.

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