Consensus recommendations on lymphedema in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the SHANK3 gene. Lymphedema can be a clinical feature in 10–25% of individuals with PMS due to a deletion 22q13.3, but is not observed in those with a SHANK3 variant. This paper forms a part of the European consensus guideline for PMS and focuses on what is known regarding lymphedema in PMS in order to present clinical recommendations. The mechanism causing lymphedema in PMS is unknown. Lymphedema can be suggested by pitting oedema of the extremities or, in later stages, non-pitting swelling. It can occur already at a young age and be progressive if untreated, impacting daily functioning. Lymphedema can be treated using existing general multidisciplinary management guidelines, taking the functioning of the individual with PMS into account. Furthermore, well-known risk factors for the development of lymphedema as lack of physical activities and weight gain/obesity should be addressed. Diagnosis and treatment are best performed in a multidisciplinary centre of expertise.</p

Comparative efficacy of two fipronil spot-on formulations against experimental tick infestations (Ixodes ricinus) in dogs

A parallel-group-design, randomized, unicentre and blinded controlled study was undertaken to assess the efficacy of a new fipronil-based spot-on formulation applied once to dogs against experimental Ixodes ricinus infestations. Six dogs served as negative controls (group 1), six dogs served as positive controls (group 2) receiving the original fipronil spot-on (Frontline® spot-on Dog, Merial) at a dosage of 0.67 mL for a dog weighing from 2 to 10 kg and 1.34 mL for a dog weighing from 10.1 to 20 kg and six dogs were treated with a 10% w/v fipronil-based spot-on solution (Effipro® Spot-on, Virbac SA) at an identical dosage (group 3, 0.67 mL for a dog weighing from 2 to 10 kg and 1.34 mL for a dog weighing from 10.1 to 20 kg). Each dog was sedated and subsequently infested with 50 unfed adult I. ricinus on days −7, −2, 7, 14, 21, 28 and 35. Forty-eight hours after the treatment and 48 h after each challenge (days −5, 2, 9, 16, 23, 30 and 37), the population of the remaining ticks was assessed for each animal. Geometric mean tick counts obtained were reduced by 99% and 94% on day 2 in groups 2 and 3, respectively, compared to the negative control group. Dogs were protected from re-infestations with an efficacy of >90% for 3 weeks in group 2 and for 5 weeks in group 3. Both 10% w/v fipronil-based spot-on solutions, despite different vehicles, were equally able to eradicate tick infestation, to prevent new infestations and were equally well tolerated

Delayed-Onset Hemolytic Anemia in Patients with Travel-Associated Severe Malaria Treated with Artesunate, France, 2011–2013

French Artesunate Working GroupInternational audienceArtesunate is the most effective treatment for severe malaria. However, delayed-onset hemolytic anemia has been observed in ≈20% of travelers who receive artesunate, ≈60% of whom require transfusion. This finding could discourage physicians from using artesunate. We prospectively evaluated a cohort of 123 patients in France who had severe imported malaria that was treated with artesunate; our evaluation focused on outcome, adverse events, and postartesunate delayed-onset hemolysis (PADH). Of the 123 patients, 6 (5%) died. Overall, 97 adverse events occurred. Among the 78 patients who received follow-up for >8 days after treatment initiation, 76 (97%) had anemia, and 21 (27%) of the 78 cases were recorded as PADH. The median drop in hemoglobin levels was 1.3 g/dL; 15% of patients with PADH had hemoglobin levels of <7 g/dL, and 1 required transfusion. Despite the high incidence of PADH, the resulting anemia remained mild in 85% of cases. This reassuring result confirms the safety and therapeutic benefit of artesunate

Primary intestinal lymphangiectasia (Waldmann's disease)

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy leading to lymphopenia, hypoalbuminemia and hypogammaglobulinemia. PIL is generally diagnosed before 3 years of age but may be diagnosed in older patients. Prevalence is unknown. The main symptom is predominantly bilateral lower limb edema. Edema may be moderate to severe with anasarca and includes pleural effusion, pericarditis or chylous ascites. Fatigue, abdominal pain, weight loss, inability to gain weight, moderate diarrhea or fat-soluble vitamin deficiencies due to malabsorption may also be present. In some patients, limb lymphedema is associated with PIL and is difficult to distinguish lymphedema from edema. Exsudative enteropathy is confirmed by the elevated 24-h stool α1-antitrypsin clearance. Etiology remains unknown. Very rare familial cases of PIL have been reported. Diagnosis is confirmed by endoscopic observation of intestinal lymphangiectasia with the corresponding histology of intestinal biopsy specimens. Videocapsule endoscopy may be useful when endoscopic findings are not contributive. Differential diagnosis includes constrictive pericarditis, intestinal lymphoma, Whipple's disease, Crohn's disease, intestinal tuberculosis, sarcoidosis or systemic sclerosis. Several B-cell lymphomas confined to the gastrointestinal tract (stomach, jejunum, midgut, ileum) or with extra-intestinal localizations were reported in PIL patients. A low-fat diet associated with medium-chain triglyceride supplementation is the cornerstone of PIL medical management. The absence of fat in the diet prevents chyle engorgement of the intestinal lymphatic vessels thereby preventing their rupture with its ensuing lymph loss. Medium-chain triglycerides are absorbed directly into the portal venous circulation and avoid lacteal overloading. Other inconsistently effective treatments have been proposed for PIL patients, such as antiplasmin, octreotide or corticosteroids. Surgical small-bowel resection is useful in the rare cases with segmental and localized intestinal lymphangiectasia. The need for dietary control appears to be permanent, because clinical and biochemical findings reappear after low-fat diet withdrawal. PIL outcome may be severe even life-threatening when malignant complications or serous effusion(s) occur

Genital Lymphedema after Cancer Treatment: A Narrative Review

Genital lymphedema may affect males and females after cancer treatment (gynecological, such as cervical, uterine or ovarian, melanoma, prostate, anus…). It is frequently associated with lower limb lymphedema, and is responsible for discomfort, cosmetic disfigurement and functional disturbances. Impacts on body image, sexual function and quality of life are major, and difficult to explore because cancer treatment itself and lymphedema are so closely interwoven. Local complications, e.g., papillomatosis, warty growth, lymph vesicles with embarrassing lymph oozing and cellulitis, may occur. Usual lymphedema therapies, like bandaging and elastic compression, are poorly adapted to these sites. Surgery, essentially based on cutaneous resection techniques, is the primary symptomatic treatment; it achieves good efficacy, in adults and children, with possible recurrence requiring reintervention

Traitement chirurgical des chémodectomes de la bifurcation carotidienne (intérêt du sacrifice carotide externe)

Les chémodectomes de la bifurcation carotidienne sont une pathologie rare. Nous rapportons ici l expérience de la Pitié Salpêtrière où une exérèse maximaliste et le sacrifice de la carotide externe sont privilégiés. Le potentiel évolutif est essentiellement local et la chirurgie source de séquelle neurologique dans 30% des cas. A notre sens l embolisation préopératoire est inutile et parfois dangereuse par migration intracérébrale. La radiothérapie n a pas de place dans le traitement curatif de ces tumeurs le plus souvent bénigneCarotid body tumors are a rare neoplasm. We report here the experiment of the hospital La Pitié Salpêtrière where a maximalist excision and sacrifice of the external carotid artery are favoured. The evolutive course is essentially local and surgery source of neurological sequelae in 30% cases. We consider that preoperative embolization is useless and possibly dangerous with intracerebral migration of glue. Radiotherapy cannot be proposed in a curative way for these tumors that are oftenly benignPARIS12-CRETEIL BU Médecine (940282101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Cellulitis risk factors for patients with primary or secondary lymphedema

International audienceBACKGROUND: Limb lymphedema is a chronic disease with primary and secondary forms, with the latter occurring essentially after cancer treatment. In the present study, we retrospectively analyzed the cellulitis frequency and its associated risk factors for patients with primary or secondary limb lymphedema. METHODS: Information from all 1991 patients referred to a specialized lymphedema center from January to June 2018 was collected, including previous cellulitis episodes and the clinical and lymphedema characteristics. RESULTS: Of the 1846 patients whose information could be analyzed, 695 (37.6%) had experienced one or more cellulitis episodes, and 23.3% had had recurrent cellulitis. Cellulitis occurred in 39.5%, 30.5%, and 38.6% (P = .02) of the patients with secondary upper limb, secondary lower limb, and primary lower limb lymphedema, respectively. The corresponding duration of lymphedema was 106.5, 97, and 243.1 months. For secondary upper limb lymphedema, a long interval from lymphedema onset to the first consultation at our specialized center, younger age at lymphedema onset, and the use of radiotherapy were independently associated with cellulitis. However, axillary lymph node excision, the use of chemotherapy, and segmentation of the upper limb lymphedema were not associated with cellulitis. A longer interval from lymphedema onset to the first consultation and lymph node excision were associated with cellulitis in those with lower limb secondary lymphedema but higher body mass index and younger age at lymphedema onset were not. For primary lower limb lymphedema, male sex, greater body mass index, and younger age at lymphedema onset were associated with cellulitis. CONCLUSIONS: Different risk factors for cellulitis were identified for patients with lymphedema at risk. Awareness of those factors is important for physicians to recognize lymphedema promptly and refer patients to specialized centers to optimize treatment

Déterminisme génomique et post-génomique de la résistance de Plasmodium falciparum aux antipaludéens

L'impact médical du paludisme est la conséquence de la résistance de P.falciparum à la plupart des antipaludéens. L'étude de la résistance repose sur les tests in vivo et les tests in vitro. Leurs contraintes respectives limitent leur capacité à produire des résultats rapides. L'objectif de ce travail est de développer une méthode permettant de distinguer les espèces plasmodiales, de mesurer la sensibilité du parasite et de détecter les mutations. La PCR en temps réel nous a permis de déterminer la sensibilité à la chloroquine de souches de culture, la charge parasitaire de patients traités par antipaludéens et d'identifier les 4 espèces plasmodiales. L'utilisation de sondes d'hybridation a permis d'établir le polymorphisme de 217 échantillons collectés sur anticoagulant ou sur papier buvard pour 3 loci du gène pfcrt et 5 loci du gène pfmdr1. L'utilisation de cette méthode doit permettre d'établir une base comportant les données essentielles à la définition rapide d'une politique thérapeutique de première et deuxième intention.LYON1-BU Santé (693882101) / SudocPARIS-BIUP (751062107) / SudocSudocFranceF