Unusual Cutaneous Lesions in a 53-Year-Old Female: A Potential Indicator of Underlying Renal Cell Carcinoma.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder resulting from mutations in the fumarate hydratase (FH) gene. It is characterised by a predisposition to cutaneous and uterine leiomyomas (fibroids) and an aggressive form of renal cell carcinoma (RCC). We report the case of a 53-year-old female who presented with an unusual rash in the context of a personal and family history of uterine leiomyomas requiring hysterectomy. A skin biopsy confirmed cutaneous leiomyomas and subsequent genetic testing demonstrated a pathogenic heterozygous mutation on exon 7 of the FH gene, confirming a diagnosis of HLRCC. Due to the recognised association with renal cell carcinoma in this syndrome, abdominal imaging was performed, which excluded RCC, and the patient was commenced on lifelong surveillance with annual abdominal magnetic resonance imaging.

First study on microscopic and molecular evidences of two bovine hemoplasma species in cattle herds in Al-Qadisiyah Province, Iraq.

Background and Aim: Hemotropic Mycoplasmas are small epierythrocytic bacteria that cause infectious anemia in several livestock species and in humans. Several reports have been made on hemoplasma infections in the south and north of Iraq, but there have been no studies in the middle Euphrates of Iraq. This study aimed to evaluate the presence of hemoplasma species in cattle in Al-Qadisiyah Province, Iraq. Materials and Methods: Two hundred blood samples were collected from cattle with pale mucous membrane from regions with heavy tick endemicity. The samples were analyzed for the presence of Rickettsia pathogens using thin blood smears and the Diff-Quik stains. All the samples were also examined using polymerase chain reaction (PCR) to amplify the 16S ribosomal ribonucleic acid (rRNA) gene to confirm the presence of the smear-identified microorganisms. Ten PCR positive samples were subjected to 16S rRNA partial gene sequencing to identify the species. Results: The findings uncovered positivity in 68 (34%) blood smears. PCR revealed positive confirmation in 18 (9%) of the 200 blood samples. Mycoplasma wenyonii and Candidatus mycoplasma hemobos were identified from 10 PCR positive samples. The nucleotide sequences of the isolates were closely related to isolates from cattle, buffalo, and dogs in Vietnam, Cuba, India, and Germany. Conclusion: Bovine hemoplasma infections are prevalent in cattle in the Al-Qadisiyah Province in Iraq. Our results may have significance for the development of control programs.

Molecular Assay Proves the Presence of Theileria annulata Infection in Camels in Al-Diwaniyah Province, Iraq.

BACKGROUND: Theileria camelensis and T. dromedarii are parasitic protozoans reported by several studies as specific species that infect the one-humped camel (Camelus dromedarius). However, other findings casted significant doubts on the true identity of the causative species of theileriosis in camels. Therefore, the present study was conducted to investigate of T. camelensis and T. dromedarii in one humped camels in Iraq during Apr-Oct 2017. METHODS: Blood samples for DNA extraction were obtained from 181 slaughtered camels. Molecular investigation was performed following the amplification of 18S rRNA gene by conventional PCR technique. DNA sequencing was then utilized only for the positive samples to confirm the infection with the Theileria species. RESULTS: Nine (4.97%) out of 181 examined samples showed a positive result to infection with Theileria spp., and all these appeared as a T. annulata when subjected to DNA amplification and sequencing techniques. There was a complete absence of any new sequence outside the known species. CONCLUSION: Most of Theileria infection in camels in the study area is caused by T. annulata and no other causative agents like T. camelensis or T. dromedarii.

[Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases]. / Diagnostic biochimique et moléculaire de l'hyperoxalurie primaire de type 1: étude tunisienne à propos de 15 cas.

BACKGROUND: The primary type 1 hyperoxaluria (HP1) is the most frequent and severe form of the primary hyperoxaluriae. It is related to an enzymatic deficit in alanine glyoxylate aminotransferase (AGT). It is a recessive autosomic disease. Rare in Europe, it is responsible for 13% of the end stage renal failure in the Tunisian child. AIM: The aim of this work is to evaluate the biological and molecular examinations contributing with the early diagnosis and the follow-up of the HP1 patients and to test their response to pyridoxin. PATIENTS AND METHODS: A prospective study of 15 children who have oxaluria lower than 500 µmol/l and normal renal function is carried out. The cristalluria study, oxaluria and the glycolate-glycerate urinary ratio were carried out on all the patients. The so-called mutation maghrebean T853 (Ile244 Thr) was detected by direct sequencing of the exon 7 gene AGXT. The response to pyridoxin was tested among 13 patients. RESULTS: The oxaluria concentration was greater or equal to 1000 µmol/l in nine cases (60%) and ranging between 600 and 1000 µmol/l in the remaining cases. The oxaluria flow was significantly high depending on the age. The glycolaturia was high among eight patients (57%). In 61,5% of the cases, the most frequent crystalline species was whewellite (C1). The "maghrebin" mutation was identified in nine patients at the heterozygous state, showing 25% allelic frequency. The response to pyridoxin was observed in the 13 tested cases. CONCLUSION: The HP1 is frequent in our country from where the need for an early diagnosis. The use of simple biochemical tools such as the study of the cristalluria, the morphological analysis of stones and the oxaluria allow to direct the diagnosis towards a HP1, confirmed by the glycolaturia determination. The molecular biology is required in the atypical forms.

[Urinary stones in Tunisian children, based on series of 187 cases]. / La lithiase urinaire chez l'enfant tunisien. Etude à propos de 187 cas.

OBJECTIVE: The aim of this study is to define epidemiologic and structural particularities of urinary stones in Tunisian children. PATIENT AND METHODS: Between 1995 to 2007, 187 stones of Tunisian children were studied. Structural analysis was performed by infrared spectrophotometry. RESULTS: We analyzed 187 stones from 122 boys and 65 girls. Their age ranged from two months to 18 years. Our study shows a male predominance with a sex ratio of 1,88. Stones were renal in 64.8%, ureteral in 20.6% and 14.6% were vesical. Whewellite was the main component (49,2% of stones) with a female predominance. Among phosphatic stones, carbapatite was in the lead (10.7%) followed by struvite (7%), which predominate in male. CONCLUSION: The epidemiological profile of urinary stones in children in Tunisia is situated between that observed in developed countries and that observed in developing countries.

Anti-genotoxic and free-radical scavenging activities of extracts from (Tunisian) Myrtus communis.

The effect of extracts from leaves of Myrtus communis on the SOS reponse induced by Aflatoxin B1 (AFB1) and Nifuroxazide was investigated in a bacterial assay system, i.e. the SOS chromotest with Escherichia coli PQ37. Aqueous extract, the total flavonoids oligomer fraction (TOF), hexane, chloroform, ethyl acetate and methanol extracts and essential oil obtained from M. communis significantly decreased the SOS response induced by AFB1 (10 microg/assay) and Nifuroxazide (20 microg/assay). Ethyl acetate and methanol extracts showed the strongest inhibition of the induction of the SOS response by the indirectly genotoxic AFB1. The methanol and aqueous extracts exhibited the highest level of protection towards the SOS-induced response by the directly genotoxic Nifuroxazide. In addition to anti-genotoxic activity, the aqueous extract, the TOF, and the ethyl acetate and methanol extracts showed an important free-radical scavenging activity towards the 1,1-diphenyl-2-picrylhydrazyl (DPPH) radical. These results suggest the future utilization of these extracts as additives in chemoprevention studies.