Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene.

OBJECTIVES: To investigate whether the lactate dehydrogenase D (LDHD) gene deficiency causes juvenile-onset gout. METHODS: We used whole-exome sequencing for two families and a targeted gene-sequencing panel for an isolated patient. d-lactate dosages were analysed using ELISA. RESULTS: We demonstrated linkage of juvenile-onset gout to homozygous carriage of three rare distinct LDHD variants in three different ethnicities. In a Melanesian family, the variant was (NM_153486.3: c.206C>T; rs1035398551) and, as compared with non-homozygotes, homozygotes had higher hyperuricaemia (P = 0.02), lower fractional clearance of urate (P = 0.002), and higher levels of d-lactate in blood (P = 0.04) and urine (P = 0.06). In a second, Vietnamese, family, very severe juvenile-onset gout was linked to homozygote carriage of an undescribed LDHD variant (NM_153486.3: c.1363dupG) leading to a frameshift followed by a stop codon, p.(AlaGly432fsTer58). Finally, a Moroccan man, with early-onset and high d-lactaturia, whose family was unavailable for testing, was homozygous for another rare LDHD variant [NM_153486.3: c.752C>T, p.(Thr251Met)]. CONCLUSION: Rare, damaging LDHD variants can cause autosomal recessive early-onset gout, the diagnosis of which can be suspected by measuring high d-lactate levels in the blood and/or urine.

Scabies incidence and association with skin and soft tissue infection in Loyalty Islands Province, New Caledonia: A 15-year retrospective observational study using electronic health records.

BACKGROUND: Scabies and its complications are a public health problem in the low- and middle-income countries of the Western Pacific region. However, no data are available for the relatively wealthy French territory of New Caledonia. This study aimed to determine the incidence of scabies and its association with skin and soft tissue infection (SSTI) in Loyalty Islands Province (LIP) (20,000 inhabitants), New Caledonia. METHODOLOGY/PRINCIPAL FINDINGS: This retrospective observational study reviewed cases of scabies and SSTI extracted from the electronic health record databases of LIP clinics for the period 2004-2018. Data were validated through double sampling. The overall scabies incidence rate (IR) and scabies IRs by sex and age group were calculated. Scabies seasonality was evaluated. For children <5 years, the presence of SSTI was compared between the 3-month period preceding scabies diagnosis/treatment and the 3-month period preceding the 1-year anniversary of scabies diagnosis/treatment (self-matching). A total of 16,843 scabies cases were extracted using a detection algorithm with a sensitivity of 96.7% and a specificity of 99.9%. From 2004 to 2018, the average overall scabies IR was 5.9% and the average scabies IR in children <1 year was 18.4%. Almost two-thirds of children aged 14 years had a history of scabies. Females were more affected, especially in the 20-39 age group (sex ratio>2). A strong seasonality was observed, with a 30% increase in winter. In children <5 years, SSTIs were 4.3 times more frequent in the 3 months preceding the scabies diagnosis than in the 3 months preceding the 1-year anniversary of scabies treatment (p<0.001). CONCLUSIONS: Although health care is much better in New Caledonia than in neighboring countries, scabies is highly endemic in LIP. The disease is especially common in children <2 years and is associated with many SSTIs in children <5 years. Mass drug administration should be considered.

Eosinophilic meningitis in New Caledonia: The role of Angiostrongylus cantonensis?

INTRODUCTION: Eosinophilic meningitis is a rare form of meningitis with sequelae or death occurring in approximately 2-3% of cases. The most frequent etiological agent is the parasite Angiostrongylus cantonensis. The aim of this study was to characterize New Caledonian cases and to assess the extent to which of A. cantonensis was involved. MATERIAL AND METHODS: We performed a retrospective study of all cases of eosinophilic meningitis (EM) admitted to the Territorial Hospital of New Caledonia, from 2004 to 2019. We performed a descriptive and a multivariate analysis to identify association of variables with severe and fatal cases (or cases with sequelae). CONCLUSION: Angiostrongyliasis was confirmed as being responsible for 17 of the 92 reported EM cases in New Caledonia from 2004 to 2019 with most being young adults and non-walking infants, and with two peaks of incidence one during the dry season and one during the rainy season. Considering the high incidence and regularity of cases, the potential reservoirs should be identified to target prevention campaigns.

Clinical features and prognosis of paraquat poisoning in French Guiana: A review of 62 cases.

Paraquat is a nonselective contact herbicide of great toxicological importance, being associated with high mortality rates. Because of its high toxicity, the European Union withdrew it from its market in 2007. The aim of this study is to analyze all cases of paraquat poisoning hospitalized in French Guiana in order to assess their incidence and main characteristics.Medical records of all paraquat intoxicated patients hospitalized from 2008 until 2015 were reviewed in this retrospective study.Demographics, clinical presentation, and laboratory data were evaluated.A total of 62 cases were reviewed. The incidence of paraquat poisoning was 3.8/100,000 inhabitants/year. There were 44 adults and 18 children younger than 16 years of age. The median ages were 31 years [18.08-75.25] in adults and 13.4 years [0.75-15.08] in children, respectively. The median duration of hospitalization was longer in children [15.5 days (1-24)] than in adults [2 days (1-30)], P < .01. The majority of cases was due to self-poisoning (84%).Children had ingested a lower quantity of paraquat [48.8 mg/kg (10-571.1)] than adults [595.8 mg/kg (6-3636.4), P = .03]. There were more deaths among adults (65%) than in children (22%), P = .004. The severity and outcome was determined primarily by the amount of paraquat ingested.In conclusion, French Guiana has the largest cohort of paraquat poisonings in the European Union. The major factor affecting the prognosis of patients was the ingested amount of paraquat. The administration of activated charcoal or Pemba, in situ, within the first hour after ingestion of paraquat is essential.

Altitude and seasonality impact on sleep in Antarctica.

BACKGROUND: This study investigates the effects of seasonality and altitude on sleep in extreme Antarctic conditions. METHODS: During summer and winter periods, 24 h of actimetric recordings were obtained at two different research stations, Dumont d'Urville (sea level altitude) and Concordia (corrected altitude 12,467 ft or 3800 m). RESULTS: During daytime, there were no altitude- or season-related differences in time spent at work, energy expenditure, or number of walking steps. During the nighttime however, total sleep time was longer (m = 427.4; SD = 42.4), sleep efficiency higher (m = 90; SD = 4.8), and wake after sleep onset shorter (m = 42.2; SD = 28.7) at sea level. Additionally, sleep fragmentation episodes and energy expenditure were higher during summer than winter periods. DISCUSSION: Our results show that dramatic variations in light exposure are not the only main factor affecting sleep quality in Antarctica, as altitude also markedly impacted sleep in these conditions. The effect of altitude-induced hypoxia should be taken into account in future investigations of sleep in extreme environments.