Congenital complete arhinia with alobar holoprosencephaly.

Congenital arhinia is a life-threatening, rare craniofacial disorder, which, when not identified and managed early can cause severe respiratory distress at birth due to upper airway obstruction. Since neonates are obligate nasal breathers, simultaneous sucking and breathing requirement in neonates with arhinia leads to respiratory distress. Inspiration and expiration through the oral passage alone may result in thoracic retraction, thereby further exacerbating respiratory distress.

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P.

Perspectives on Resuscitation Decisions at the Margin of Viability among Specialist Newborn Care Providers in Ghana and Ethiopia: A Qualitative Analysis.

Background: In high income countries, guidelines exist recommending gestational age thresholds for offering and obligating neonatal resuscitation for extremely preterm infants. In low- and middle- income countries, this approach may be impractical due to limited/inconsistent resource availability and challenges in gestational dating. Scant literature exists on how clinicians in these settings conceptualize viability or make resuscitation decisions for premature infants.

Timing of initiation of breastfeeding and its determinants at a tertiary hospital in Ghana: a cross-sectional study.

Background: Early initiation of breastfeeding (EIBF), breastfeeding within first hour after birth, is known to have major benefits for both the mother and newborn. EIBF rates, however, tends to vary between and within countries. This study set out to determine the prevalence of EIBF at the Komfo Anokye Teaching Hospital (KATH), Kumasi, Ghana, and to evaluate the determinants of EIBF and time to initiation of breastfeeding.

Immediate "Kangaroo Mother Care" and Survival of Infants with Low Birth Weight.

Background: "Kangaroo mother care," a type of newborn care involving skin-to-skin contact with the mother or other caregiver, reduces mortality in infants with low birth weight (<2.0 kg) when initiated after stabilization, but the majority of deaths occur before stabilization. The safety and efficacy of kangaroo mother care initiated soon after birth among infants with low birth weight are uncertain.

Provider perspectives on in Ghana.

Neonatal mortality is one of the leading causes of under-five mortality globally, with the majority of these deaths occurring in low- and middle-income countries. In Ghana, there is a belief in an array of newborn conditions, called Asram, that are thought to have a spiritual, rather than physical, cause. These conditions are predominantly managed by traditional healers as they are considered unable to be treated by allopathic medical providers.

Small and sick newborn care during the COVID-19 pandemic: global survey and thematic analysis of healthcare providers' voices and experiences.

Introduction: The COVID-19 pandemic is disrupting health systems globally. Maternity care disruptions have been surveyed, but not those related to vulnerable small newborns. We aimed to survey reported disruptions to small and sick newborn care worldwide and undertake thematic analysis of healthcare providers' experiences and proposed mitigation strategies.

Neonatal near-misses in Ghana: a prospective, observational, multi-center study.

Background: For every newborn who dies within the first month, as many as eight more suffer life-threatening complications but survive (termed 'neonatal near-misses' (NNM)). However, there is no universally agreed-upon definition or assessment tool for NNM. This study sought to describe the development of the Neonatal Near-Miss Assessment Tool (NNMAT) for low-resource settings, as well as findings when implemented in Ghana.

A randomized crossover trial comparing the Nifty cup to a medicine cup in preterm infants who have difficulty breastfeeding at Komfo Anokye Teaching Hospital (KATH) in Kumasi, Ghana.

Introduction: Preterm infants make up the majority of the 9 million babies born in Africa and South Asia requiring supplemental feedings as they transition to exclusive breastfeeding. The World Health Organization recommends the use of a cup to feed newborns with breastfeeding difficulties in low-resource settings. We set out to evaluate the Nifty cup, a new feeding cup designed specifically for infants with breastfeeding difficulties.

Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.

Background: Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits.

Methods: We recently conducted genotyping of individuals from the African population using the multiethnic genotyping array (MEGA) to identify common genetic variation associated with nonsyndromic orofacial clefts.

Pilot testing of the Becoming Breastfeeding Friendly toolbox in Ghana.

Background: Ghana has achieved significant progress in breastfeeding practices in the past two decades. Further progress is, however, limited by insufficient government funding and declining donor support for breastfeeding programs. The current study pretested feasibility of the in Ghana, to assess the existing enabling environment and gaps for scaling-up effective actions.

"We call them miracle babies": How health care providers understand neonatal near-misses at three teaching hospitals in Ghana.

Neonatal mortality is a significant problem in many low-resource countries, yet for every death there are many more newborns who suffer a life-threatening complication but survive. These "near-misses" are not well defined, nor are they well understood. This study sought to explore how health care providers at three tertiary care centers in Ghana (each with neonatal intensive care units (NICUs)) understand the term "near-miss.

The prevalence, penetrance, and expressivity of etiologic variants in orofacial clefts patients from sub-Saharan Africa.

Background: Orofacial clefts are congenital malformations of the orofacial region, with a global incidence of one per 700 live births. Interferon Regulatory Factor 6 () (OMIM:607199) gene has been associated with the etiology of both syndromic and nonsyndromic orofacial clefts. The aim of this study was to show evidence of potentially pathogenic variants in in orofacial clefts cohorts from Africa.

Assessment of prison life of persons with disability in Ghana.

Background: Persons with Disabilities (PWDs) are a unique group that are often overlooked in many developing countries due to systemic weaknesses, lack of political commitment and inadequate support from government and non-governmental agencies. The population of these individuals is however steadily on the increase and currently corresponds to 15 % of the world population. Although much data exist on lifestyle and conditions of prisoners with disabilities in the western world, scanty information is available in Africa.

Knowledge and Perceptions of Health Workers' Training on Ethics, Confidentiality and Medico-Legal Issues.

Introduction: Health care delivery in recent times has become more complicated, as patients expect health personnel to not only provide professional services but be accountable as well. It is thus imperative that health personnel are aware of their responsibility to the patient and also sensitive to medico legal issues if quality health care is to be assured.

Objective: The aim of the study was to assess the knowledge and perception of health care workers on their training in ethics, confidentiality and medico-legal issues.

Perception and practice of Kangaroo Mother Care after discharge from hospital in Kumasi, Ghana: a longitudinal study.

Background: The practice of Kangaroo Mother Care (KMC) is life saving in babies weighing less than 2000 g. Little is known about mothers' continued unsupervised practice after discharge from hospitals. This study aimed to evaluate its in-hospital and continued practice in the community among mothers of low birth weight (LBW) infants discharged from two hospitals in Kumasi, Ghana.

Komfo Anokye Teaching Hospital Multidisciplinary Cleft Clinic.

Background: A retrospective review of cleft lip and palate surgeries at our hospital during 2001-2005 showed an increase in patients treated per year. The aim of the study was to review the activities of the clinic, hence to determine the variation in number of cleft lip and palate cases and surgeries from 2006 to 2009, and also to identify the commonest type of cleft cases during the same period.

Methods: Data for this retrospective study were obtained from the outpatient department records of the cleft clinic and operating theater.

Cleft lip and palate surgery in Kumasi, Ghana: 2001-2005.

Background: A retrospective review of cleft lip operations at our hospital during 1991-2000 showed that on average 17 patients per year were operated on for cleft lip and palate and that each year saw an increasing number of patients being treated. The purpose of this study was to determine the change that had occurred in the number of patients treated for cleft lip and palate during the five-year period from 2001-2005.

Patients And Methods: This is a retrospective review of cleft lip and palate operations carried out under general anesthesia at the Komfo Anokye Teaching Hospital.