Cholera Outbreak - Haiti, September 2022-January 2023.

On September 30, 2022, after >3 years with no confirmed cholera cases (1), the Directorate of Epidemiology, Laboratories and Research (DELR) of the Haitian Ministry of Public Health and Population (Ministère de la Santé Publique et de la Population [MSPP]) was notified of two patients with acute, watery diarrhea in the metropolitan area of Port-au-Prince. Within 2 days, Haiti's National Public Health Laboratory confirmed the bacterium Vibrio cholerae O1 in specimens from the two patients with suspected cholera infection, and an outbreak investigation began immediately. As of January 3, 2023, >20,000 suspected cholera cases had been reported throughout the country, and 79% of patients have been hospitalized.

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but highly variable expressivity. In most patients, Next Generation Sequencing (NGS) technologies allow the identification of a loss-of-function pathogenic variant in the NF1 gene, a negative regulator of the RAS-MAPK pathway. We describe the 5-year diagnosis wandering of a patient with a clear NF1 clinical diagnosis, but no molecular diagnosis using standard molecular technologies.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with Variants.

Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel.

Novel Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Variants of the gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of Four adult patients presented either COD or CORD with onset in the late teenage years.

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in , Including a Variation.

Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in . Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however, early-onset progressive retinal degeneration affecting both cones and rods (cone-rod type) is universal, leading to blindness by the teenage years. Other features include cardiomyopathy, kidney dysfunction, sensorineural deafness, and childhood obesity associated with hyperinsulinemia and type 2 diabetes mellitus.

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.

Mutations in genes encoding aminoacyl-tRNA synthetases have been reported in several neurological disorders. KARS is a dual localized lysyl-tRNA synthetase and its cytosolic isoform belongs to the multiple aminoacyl-tRNA synthetase complex (MSC). Biallelic mutations in the KARS gene were described in a wide phenotypic spectrum ranging from nonsyndromic deafness to complex impairments.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Inherited retinal disorders (IRD) represent clinically and genetically heterogeneous diseases. To date, pathogenic variants have been identified in ~260 genes. Albeit that many genes are implicated in IRD, for 30-50% of the cases, the gene defect is unknown.

Virologic outcome among patients receiving antiretroviral therapy at five hospitals in Haiti.

Introduction: Viral load (VL) assessment is the preferred method for diagnosing and confirming virologic failure for patients on antiretroviral therapy (ART). We conducted a retrospective cross-sectional study to evaluate the virologic suppression rate among patients on ART for ≥6 months in five hospitals around Port-au-Prince, Haiti.

Methods: Plasma VL was measured and patients with VL <1,000 copies/mL were defined as virologically suppressed.

Retention Throughout the HIV Care and Treatment Cascade: From Diagnosis to Antiretroviral Treatment of Adults and Children Living with HIV-Haiti, 1985-2015.

Monitoring retention of people living with HIV (PLHIV) in the HIV care and treatment cascade is essential to guide program strategy and evaluate progress toward globally-endorsed 90-90-90 targets (i.e., 90% of PLHIV diagnosed, 81% on sustained antiretroviral therapy (ART), and 73% virally suppressed).

Trends in Prevalence of Advanced HIV Disease at Antiretroviral Therapy Enrollment - 10 Countries, 2004-2015.

Monitoring prevalence of advanced human immunodeficiency virus (HIV) disease (i.e., CD4+ T-cell count <200 cells/μL) among persons starting antiretroviral therapy (ART) is important to understand ART program outcomes, inform HIV prevention strategy, and forecast need for adjunctive therapies.

Comparison of electromagnetic neuronavigation system and free-hand method for ventricular catheter placement in internal shunt.

Objective: Optimal ventricular catheter positioning is able to reduce the risk of catheter dysfunction, and subsequently the risk of multiple revision surgery. The objective of our study was to compare the proportion of optimal ventricular catheter placements in a cohort of patients operated for ventriculoperitoneal (VP) shunt between a free-hand group and a neuronavigated group.

Patients And Methods: Twenty patients with hydrocephalus requiring VP shunt were prospectively included in this study.

"This Method, I Think, Can Shed New Light": Haitian-American Women's Reflections on Risk, Culture, and Family Planning Decisions From a Short-Term Trial of a Cervical Barrier (Femcap™).

Improving the reproductive health of immigrant populations requires understanding the specific context of risk and need. As part of a field trial of the FemCap™, a woman-initiated cervical barrier contraceptive, we conducted postintervention focus group discussions (FGDs) with 20 women (five FGDs) of Haitian background, the majority of whom were born in Haiti and spoke Haitian Créole at home, at a community health center in south Florida. Participants discussed the role of religion and inequitable gender norms in Haitian traditions about family planning decisions and provided important insights into the gender-power nuances of their partnership dynamics vis à vis the use of female barrier methods.

Lower Levels of Antiretroviral Therapy Enrollment Among Men with HIV Compared with Women - 12 Countries, 2002-2013.

Equitable access to antiretroviral therapy (ART) for men and women with human immunodeficiency virus (HIV) infection is a principle endorsed by most countries and funding bodies, including the U.S. President's Emergency Plan for AIDS (acquired immunodeficiency syndrome) Relief (PEPFAR) (1).

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. The prognosis of SGS is very severe and death occurs generally within a few years after birth. In 2002, we reported 2 children with SGS with a follow-up of 3 years.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Purpose: To describe a series of patients with Bardet-Biedl syndrome (BBS) and predominantly retinal cone dysfunction, a previously only rarely reported association.

Design: Retrospective observational case series.

Methods: Seven patients with clinically proven Bardet-Biedl syndrome had undergone detailed ocular phenotyping, which included fundus examination, Goldmann visual fields, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), and electroretinography (ERG).

'Men don't need to know everything': a field trial of a discreet, female-initiated, contraceptive barrier method (FemCap™) among Haitian-American women.

Worldwide, women report the need for safe, non-hormonal, woman-initiated methods of family planning. Cervical barriers provide such technology but are under-researched and under-promoted. In the USA, there are few studies of cervical barriers among women at high unmet need for contraception.

Development of an electronic medical record based alert for risk of HIV treatment failure in a low-resource setting.

Background: The adoption of electronic medical record systems in resource-limited settings can help clinicians monitor patients' adherence to HIV antiretroviral therapy (ART) and identify patients at risk of future ART failure, allowing resources to be targeted to those most at risk.

Methods: Among adult patients enrolled on ART from 2005-2013 at two large, public-sector hospitals in Haiti, ART failure was assessed after 6-12 months on treatment, based on the World Health Organization's immunologic and clinical criteria. We identified models for predicting ART failure based on ART adherence measures and other patient characteristics.

Migration patterns among Floridians with AIDS, 1993-2007: implications for HIV prevention and care.

Objectives: To characterize migration patterns among people diagnosed as having and who died of acquired immunodeficiency syndrome (AIDS) from 1993 to 2007 because migrating to a new community can disrupt human immunodeficiency virus/AIDS care delivery and patients' adherence to care and affect migrants' social services and healthcare needs.

Methods: Florida AIDS surveillance data were used to describe patterns of migration among people diagnosed as having and who died of AIDS from 1993 to 2007. Individual and community characteristics were compared between residence at the time of AIDS diagnosis and residence at the time of death by type of migration.

MSX2 Gene Duplication in a Patient with Eye Development Defects.

Background: MSX2 mutations are a very rare cause of craniosynostosis. Gain-of-function mutations may lead to the Boston-type craniosynostosis with limb defects and refraction errors, whereas loss-of-function mutations causes primary osseous defects such as enlarged parietal foramina.

Materials And Methods: Herein we report the case of a child with bicoronal synostosis and cutaneous syndactylies, who presented iridal and chorioretinal colobomas.

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

Background: Bardet-Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signalling receptors to and from cilia.

Methods And Results: Exome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.

Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.

Background: The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using Sanger sequencing.

Methods: Sanger sequencing of theATOH7 gene was performed on 34 affected individual DNA samples.

Factors explaining racial/ethnic disparities in rates of physician recommendation for colorectal cancer screening.

Objectives: Physician recommendation plays a crucial role in receiving endoscopic screening for colorectal cancer (CRC). This study explored factors associated with racial/ethnic differences in rates of screening recommendation.

Methods: Data on 5900 adults eligible for endoscopic screening were obtained from the National Health Interview Survey.

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on a severe developmental dental defect that results in a dentin dysplasia phenotype with major microdontia, oligodontia, and shape abnormalities in a highly consanguineous family. Homozygosity mapping revealed a unique zone on 6q27-ter.