Fecal amine metabolite analysis before onset of severe necrotizing enterocolitis in preterm infants: a prospective case-control study.

Infants developing necrotizing enterocolitis (NEC) have a different metabolomic profile compared to controls. The potential of specific metabolomics, i.e. amino acids and amino alcohols (AAA), as early diagnostic biomarkers for NEC is largely unexplored. In this multicenter prospective case-control study, longitudinally collected fecal samples from preterm infants (born <30 weeks of gestation) from 1-3 days before diagnosis of severe NEC (Bell's stage IIIA/IIIB), were analyzed by targeted high-performance liquid chromatography (HPLC). Control samples were collected from gestational and postnatal age-matched infants. Thirty-one NEC cases (15 NEC IIIA;16 NEC IIIB) with 1:1 matched controls were included. Preclinical samples of infants with NEC were characterized by five increased essential amino acids-isoleucine, leucine, methionine, phenylalanine and valine. Lysine and ethanolamine ratios were lower prior to NEC, compared to control samples. A multivariate model was rendered based on isoleucine, lysine, ethanolamine, tryptophan and ornithine, modestly discriminating cases from controls (AUC 0.67; p < 0.001). Targeted HPLC pointed to several specific AAA alterations in samples collected 1-3 days before NEC onset, compared to controls. Whether this reflects metabolic alterations and has a role in early biomarker development for NEC, has yet to be elucidated.

Foreign body granuloma: a diagnosis not to forget.

Penetrating wounds of the foot are not uncommon. Many are caused by thorns or by fragments of wood that are retained in the foot, creating a foreign-body granuloma. The differential diagnosis for bony reaction to an unrecognised organic foreign body includes osteoid osteoma, chronic and acute osteomyelitis, tuberculosis granuloma, bone cyst, aneurysmal bone cyst, cortical fibrous defect, and neoplasm. We report the case of a boy suffering from a thorn inducing a lytic lesion of the fifth metatarsal that demonstrates the diagnosis difficulties of foreign body granuloma.

[Comparison of the calcium intake during and before Ramadan in Marrakesh, Morocco]. / Comparaison de la ration calcique pendant et en dehors du mois de ramadan dans la région de Marrakech (Maroc).

We studied the effect of Ramadan fasting on calcium intake in 2 groups of 500 healthy subjects from Marrakesh using the colloquial Arabic version of the Fardellone questionnaire. The first group was investigated 5 months before Ramadan and the second during Ramadan. No significant difference was observed between the 2 groups. However, comparison of the pre-Ramadan and Ramadan periods for each age group showed a significant increase in calcium intake in subjects over 60 years. During Ramadan, consumption of milk was significantly higher, while consumption of other dairy products was not different. Overall, no significant difference in calcium intake was noted between pre-Ramadan and Ramadan periods.

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy.

OBJECTIVES: Homozygous mutations in HPGD gene, encoding 15-hydroxyprostaglandin dehydrogenase, have recently been associated with primary hypertrophic osteoarthropathy (PHO). So far, only 7 HPGD alterations are known. In order to expand this mutational spectrum and better delineate the HPGD-related phenotype, we report the clinical and molecular characterisation of a 13-year-old boy and compare his features to known mutated patients. METHODS: The HPGD gene exons 1-7 and exon-intron junctions were analysed by direct sequencing. Previously published HPGD-mutated patients were systematically reviewed based on the original clinical description. RESULTS: A novel homozygous c.217+1G>A mutation affecting the obligatory donor splice site of HPGD exon 2 was identified in our proband who showed a mild form of PHO. Review of HPGD-mutated patients outlined all patients manifested digital clubbing, periostosis and acro-osteolysis. Hyperhidrosis (92%), arthralgia (65%) and eczema (33%) were variably associated features. Pachydermia (54%) was mild and mostly limited to palms and sole; cutis vertigis gyrata, blepharoptosis and severe skin thickening were never observed. Besides digital clubbing, PHO infants often presented patent ductus arteriosus (PDA) (32%) and delayed cranial sutures closure (55%). CONCLUSIONS: The present findings broaden the allelic spectrum of HPGD gene to include a novel c.217+1G>A mutation. Mutated patients display a homogeneous phenotype mainly consisting in digital clubbing, periostosis, acro-osteolysis, hyperhidrosis and mild pachydermia. Earliest manifestations include delayed closure of the cranial sutures and PDA. In conclusion, the information reported herein would facilitate the diagnosis of PHO due to HPGD mutations.

[Evaluation of the calcium intake in population of Marrakesh and its region: 1000 cases]. / Evaluation de la ration calcique dans la population de Marrakech et de sa région: à propos de mille cas.

OBJECTIVES: The aim of our work is to evaluate the calcium intake in population of Marrakesh and its region by the translated version in Moroccan Arabic dialect of Fardellone questionnaire. SUBJECTS AND METHODS: The version translated into Arabic dialect Fardellone questionnaire is tested on a sample of 1000 subjects. The subjects aged less than 15 years accounted for 30.9% (n=309), those aged 15 to 59 62% (n=620) and those aged over 60 years 7.1% (n=71). The distribution by age group is calculated on the distribution of the Moroccan population. RESULTS: The study population includes 60.6% women (n=606), 39.4% of men (n=394). The mean calcium intake was respectively 5875 mg by week (that means 839 mg/day), 4899 mg by week (that means 699 mg/day), 3053 mg by week (that means 436 mg/day), in subjects aged less than 15, those aged 15 to 59, and those aged over 60 years. The average consumption of calcium per day is significantly lower than the recommended daily amount for the three age groups. Patients aged over 60 years is the age group most under nourished calcium. The comparison of both gender found a deficit higher among women than among men. CONCLUSION: Evaluation of the calcium intake is an essential tool for better management of metabolic bone diseases.

[Comparison of the calcium intake during and before Ramadan in Marrakesh, Morocco]

We studied the effect of Ramadan fasting on calcium intake in 2 groups of 500 healthy subjects from Marrakesh using the colloquial Arabic version of the Fardellone questionnaire. The first group was investigated 5 months before Ramadan and the second during Ramadan. No significant difference was observed between the 2 groups. However, comparison of the pre-Ramadan and Ramadan periods for each age group showed a significant increase in calcium intake in subjects over 60 years. During Ramadan, consumption of milk was significantly higher, while consumption of other dairy products was not different. Overall, no significant difference in calcium intake was noted between pre-Ramadan and Ramadan periods

[Primary hypertrophic osteoarthropathy in an adolescent]. / Ostéoarthropathie hypertrophiante primitive chez un adolescent.

Hypertrophic osteoarthropathy is a rare syndrome characterized by dysacromelia and periostosis with digital clubbing. Primary form is called pachydermoperiostosis. A case of a primary hypertrophic osteoarthropathy without pachydermia is reported in a 13-year-old boy, which was born of a consanguineous marriage. This case suggested an incomplete form of pachydermoperiostosis with a recessive inheritance. Pachydermoperiostosis is often familial and occurs predominantly in men. This affection is believed to be inherited in an autosomal dominant pattern but some autosomal recessive forms have also been reported.

[Value of the radiographic criteria "fingers and toes" in the early diagnosis of psoriatic arthritis]. / Apport des critères doigts--orteils dans le diagnostic précoce du rhumatisme psoriasique.

PURPOSE: To assess the value of Fournie's radiological criteria "fingers and toes" in the early diagnosis of psoriatic arthritis. MATERIALS AND METHODS: 47 patients with psoriatic arthritis were studied retrospectively. Clinical and radiological features at the hands and fingers were assessed. Radiographic analysis was performed using Fournie's criteria. RESULTS: Of 47 patients studied, 25 patients developed hand and finger involvement. Asymmetrical joint distribution was observed in 76% of cases. Distal interphalangeal arthritis was noted in 60% of cases. Nail lesions were present in 11 cases and dactylitis in 3 cases. Eight patients had erosions of the distal interphalangeal joints. Osteolysis with pencil-in-cup deformity was noted in 3 cases. Ankylosis of interphalangeal joints was found in 7 cases and acro-osteolysis in 3 cases. CONCLUSION: Psoriatic arthritis frequently affects the small joints of the hands and fingers. Asymmetrical and distal interphalangeal joint involvement are a characteristic feature of this arthropathy. Some radiological lesions are suggestive and contribute to the early diagnosis of psoriatic arthritis.

Primary psoas abscess. A review of 16 cases.

OBJECTIVE: Most psoas abscesses are secondary. The objective of this study was to report on the clinical features, diagnosis and treatment of primary psoas abscess. METHODS: We retrospectively studied 16 cases seen over a ten-year period (1987-1997) and compared our findings to published data. RESULTS: There were 14 men and two women, with a mean age of 6 years (range, 17-57 years). The right side was affected in nine cases, the left side in six, and both sides in one. Fever, pain and psoas spasm were the presenting symptoms. Laboratory tests for inflammation were positive; four patients had a high neutrophil count. Ultrasonography demonstrated a fluid collection in the psoas in 13 patients. A computed tomography scan was done in 14 patients and showed either a fluid collection (n = 11) or a presuppurative abscess (n = 3). Magnetic resonance imaging was not used. The organism was recovered in nine patients and was a Staphylococcus aureus in seven, an Escherichia coli in one and a Pseudomonas aeruginosa in one. The Brucella agglutination test was strongly positive in two patients. Findings were negative from investigations done to look for a cause (discitis, urinary tract infection, Crohn's disease, ulcerative colitis, malignancy or infection in the vicinity of the psoas muscle). All patients received antimicrobial therapy. Drainage was percutaneous in six patients and surgical in ten. The outcome was favorable in every case.

[Familial sarcoidosis: three case reports]. / La sarcoïdose familiale: à propos de trois cas.

INTRODUCTION: Familial sarcoidosis is rare. We reviewed 147 cases of sarcoidosis, whatever their localization, diagnosed at Rabat-Salé University Hospital, during a period of 10 years (1983-1993). Among these cases, we report those of three patients with sarcoidosis, in a same family. The observations concern three generations. OBSERVATIONS: Observation 1: the grandmother presented with pulmonary sarcoidosis. Observation 2: the mother presented with sarcoidosis of the skin, joint and lung. Observation 3: the daughter had cutaneous and pulmonary localizations. DISCUSSION: The real frequency of familial sarcoidosis is probably underestimated because of the big number of latent forms. A review of the literature allowed us to find 43 families with sarcoidosis. There is no clinical difference between familial sarcoidosis and usual forms of the disease, as confirmed by our findings. The preponderance of patients of the same sex in the same family, like our mother-daughter filiation is, described by the majority of the authors. This leads to suppose the existence of genetic factors. Neither this theory nor the one suggesting the possibility for etiologic agent that could perhaps affect the same persons in the same family can be currently demonstrated. Any association with an HLA group in the familial cases of sarcoidosis is unlikely. CONCLUSION: The rarity of familial sarcoidosis forms makes very difficult to establish theories regarding the familial predisposition.

Third-degree atrioventricular block in a patient under chloroquine therapy.

The first case of chronic cardiac toxicity due to an antimalarial agent was reported in 1971 and since then several cases of heart failure, restrictive cardiomyopathy or atrioventricular block have been ascribed to this family of drugs. We report the case of a 43-year-old woman who developed juvenile chronic arthritis at the age of ten, followed in adulthood by sero-positive rheumatoid arthritis. In 1980 she was put under chloroquine sulfate (hydroxychloroquine was not available) in a dose of 200 mg/d (152.66 mg of chloroquine), with 10 mg/day of prednisone. She developed myalgia and increased skin pigmentation, but disregarded recommendations that these symptoms required discontinuation of chloroquine therapy. She was lost to follow-up, but continued the chloroquine therapy of her own accord. In December 1993, she developed a third-degree atrioventricular block with syncopes requiring implantation of a pacemaker. The rare but well-documented myopathy induced by antimalarial agents can produce early severe lesions of the cardiac muscle, which may have a predilection for the interventricular septum, explaining the risk of atrioventricular block. Although histologic studies were not performed in our patient, the clinical evidence of toxicity, absence of underlying heart disease and fairly young age of the patient pointed to chloroquine toxicity. Periodic cardiac investigations including electrocardiography may be warranted in patients under antimalarial therapy.

[Pubic tuberculous osteo-arthritis. Apropos of 2 cases]. / L'ostéoarthrite pubienne tuberculeuse. A propos de deux cas.

OBJECTIVE: The authors report an exceptional site of tuberculous osteo-articular infection which must be diagnosed before the destructive stage. OBSERVATIONS: Case 1 : a 21 years old woman presented an inflammatory pubic pain after a trauma with weight loss of 4 kgs in 3 weeks. She presented also 2 satellite inguinal nodes. Erythrocyte sedimentation rate (ESR) was elevated, X-rays showed an important osteolysis of the left ischio-pubic rami, tuberculous skin test (TST) was positive, mycobacterium tuberculosis (MT) could not be found neither in sputtum nor in urine but the node biopsy showed the specific features of tuberculosis. Evolution under a 6 months antibiotic treatment was good. Case 2 : a 19 years old woman, with history of tuberculous contagion, presented in April 1996 cervical nodes and a month later inflammatory pubic and knee pain with weight loss and vesperal sudation. ESR was elevated, TST was phlyctenular, MT searching and HIV serology were negative. X rays showed irregular osteolysis of the pubic symphysis. Scintigraphy showed an increased fixation of pubis and left knee. Cervical nodes biopsy diagnosed tuberculosis. Evolution was good under a 6 months antibiotic treatment. DISCUSSION: Many factors can favorize the development of a pubic tuberculosis and are similar for all forms of tuberculous osteo-articular infection (trauma and contagion in our cases). Radiological features, characterized by a slow evolution, are note specific. Diagnostic confirmation must be bacteriologic or pathologic, and if possible far from the pubic foci. Any traumatic medical procedure has to be avoided because of painful outcome and local risk. Evolution under specific treatment, even of short course (6 months), is sufficient for a good outcome. CONCLUSION: One must think to pubic tuberculous osteo-arthritis in any pubic pain even if it is post-traumatic especially, in endemic countries of tuberculosis.

Evidence for a neuromuscular disorder in methylmercury poisoning.

Data suggestive of a neuromuscular disorder responsive to neostigmine was uncovered in the course of electrophysiological testing of Iraqi patients poisoned by methylmercury. Subsequent neostigmine therapy produced a remarkable clinical improvement of the patients. Placebo substitution resulted in a substantial loss of testable strength that was restored when drug therapy was resumed.