Subciliary Rotating Sutures Combined With Modified Hotz Procedure for Correction of Congenital Lower Eyelid Entropion.

PURPOSE: Standard techniques for the treatment of congenital lower eyelid entropion may not yield suitable outcomes or may result in overcorrection if disinsertion of the lower eyelid retractors is not the primary cause. Herein, we propose and evaluate a technique using subciliary rotating sutures combined with a modified Hotz procedure for repair of lower eyelid congenital entropion that addresses these concerns. METHODS: A retrospective chart review was conducted of all patients who underwent lower eyelid congenital entropion repair by a single surgeon using subciliary rotating sutures combined with a modified Hotz procedure between 2016 and 2020. Study variables included patient demographics, follow-up period, postoperative complications, operative success, and recurrence. RESULTS: Twelve patients (19 eyelids) met the study inclusion criteria. The mean patient age was 7.1 ± 6.1 years (range, 0.2-22 years). Nine of the patients were female (75%) and 3 were male (25%). The distribution of eyelids was 8 right (42%) and 11 left (58%). The mean follow-up time was 19.5 ± 15 (range 2.5-45) months. There were two eyelids (11%) that had entropion recurrence after initial repair in patients with concomitant compound disease processes. Repeated repair resulted in success with no recurrence at last follow-up. Overall, the described entropion repair technique was successful and without recurrence in 17 eyelids (89%). There were no cases of ectropion, lid retraction, or other complications. CONCLUSIONS: Subciliary rotating sutures combined with a modified Hotz procedure are effective for correction of congenital lower eyelid entropion. As the technique does not manipulate the posterior layer of the lower eyelid retractors, it may be useful for when retractor reinsertion does not yield adequate improvement and may also reduce the risk of eyelid retraction and overcorrection in particular cases.

IMPOWER: a national patient-generated registry for intestinal malrotation exploring diagnosis, treatment, and surgical outcomes.

BACKGROUND: Intestinal malrotation is a rare congenital condition with potentially devastating consequences due to potential volvulus and massive intestinal necrosis. Diagnosis is often delayed and long-term symptoms following surgical correction are poorly characterized. We developed the Intestinal Malrotation Patient Outcomes and WEllness Registry (IMPOWER), a national patient-generated registry (PGR), to capture data related to presenting symptoms, testing, diagnosis, treatment, and follow-up of individuals diagnosed with malrotation. IMPOWER captures patient-reported information from adult patients and parents/caregivers of children diagnosed with malrotation at the time of enrollment and at ongoing 6-month intervals. We present baseline characteristics of patients enrolled during the first two months of the registry. RESULTS: Within the first two months, 354 patients with malrotation enrolled in IMPOWER, and 191 (53.9%) completed all baseline assessments. Nearly 90% of the 119 pediatric participants and 37.7% of the 72 adult participants experienced symptoms prior to diagnosis. Vomiting was the predominant symptom for pediatric participants compared to abdominal pain in adults. Yellow bilious emesis was more commonly reported than green, and volvulus at diagnosis occurred in 70% of pediatric and 27% of adult participants. One-third of pediatric participants had a bowel resection as part of their initial surgical procedure, resulting in 23.4% with diagnosed short bowel syndrome. More than 60% of pediatric and 80% of adult registrants reported gastrointestinal symptoms that persisted throughout the first year following their initial operation. Approximately 25% of registrants reported visiting four or more gastroenterologists for management of ongoing symptoms. CONCLUSIONS: Fewer than half of pediatric patients presented with the "classic" presentation of green bilious colored emesis. Yellow bilious emesis was more commonly reported, and chronic gastrointestinal symptoms (i.e., abdominal pain, reflux, constipation, diarrhea) and feeding intolerance were common following surgical procedures for malrotation. This novel PGR highlights the need for a multicenter prospective registry to characterize the natural history and develop consistent standards of care related to the diagnosis, treatment, and long-term care for patients with malrotation.

Congenital Mesoblastic Nephroma: A Case Report.

Congenital mesoblastic nephromas are rare renal tumours that are encountered in paediatric age group. A term female neonate at the end of first week of life presented with bilateral lower limb swelling. On radiological evaluation, ultrasonography revealed an intra-abdominal mass which was managed with radical nephroureterectomy. Histopathological examination confirmed a diagnosis of congenital mesoblastic nephroma of mixed subtype. Keywords: case reports; congenital mesoblastic nephroma; kidney neoplasms; nephrectomy.

Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.

Congenital cataract is the commonest cause of visual impairment and blindness in children worldwide. Among congenital cataract cases, ~25% are caused by genetic defects, while several genetic mutations have been identified in hereditary cataract. In the present study, a patient with cataract underwent clinical ophthalmic examination and pedigree analysis. Whole exome sequencing and Sanger sequencing were performed to identify and verify gene mutations. The frequency, conservation, pathogenicity and hydrophobicity of the mutated amino acids were analyzed by bioinformatics analysis. The clinical examination and investigation verified that the probands of family A and C suffered from nuclear cataracts. In addition, the proband of family B was diagnosed with white punctate opacity. The pattern of inheritance was autosomal dominant. The sequencing analysis results revealed a mutation c.592-c593insG (p.W198Wfs*22) in exon 6 of CRYBA1/A3, a known mutation c.463C > T (p.Q155X) in exon 6 of CRYBB2 and a third mutation c.865­c.866insC (p.T289Tfs*91) in exon 2 of GJA8. Each variant was co­segregated with disease in family And the mutation frequency in the database was <0.01. It has been reported that the mutation sites are highly conserved among different species, thus greatly affecting the sequence and structure of a protein, while exhibiting high pathogenicity in theory. The two crystallin gene mutations could notably enhance the local hydrophobicity of the protein, eventually resulting in its reduced solubility and destruction of lens transparency. The current study identified pathogenic genes in three families with congenital cataract and analyzed the association between mutation sites and different cataract phenotypes. Overall, the results could expand the genotype spectrum of congenital cataract and provide evidence for its clinical diagnosis.

Congenital zika syndrome and family impacts: an integrative review. / Síndrome congênita do zika e impactos para as famílias: uma revisão integrativa.

In 2015, a range of congenital anomalies resulting from mother-to-child transmission of the zika virus emerged. Later called congenital zika syndrome (CZS), the condition includes microcephaly. Since then, around 4,000 children have been affected in 27 countries, with Brazil accounting for the largest proportion of cases. Family caregivers have also been affected. This study analyzes the literature on caregivers of children with CZS and how the disease has affected their everyday lives. We conducted an integrative review using the PubMed, Virtual Health Library, and Embase databases. Thirty-one articles were identified for analysis after screening. The findings were grouped into four categories: a) social impacts - changes in family relationships, life projects, and social life; b) subjective impacts - feelings of resilience, loneliness, grief, overburdening, fear, uncertainty, and spirituality and religion; c) economic and material impacts - loss of income, increased household expenses, change of residence, and unemployment; and d) health impacts - service unpreparedness, selflessness, self-care, changes in nutritional and sleep patterns, and mental health problems, including stress, anxiety and depression.

Em 2015, um espectro de anomalias congênitas, incluindo microcefalia, acometeu recém-nascidos como resultado da transmissão vertical pelo vírus zika, posteriormente denominada síndrome congênita do zika (SCZ). Desde então, cerca de 4 mil crianças foram afetadas em 27 países, sendo o Brasil o mais atingido. Cuidadores familiares também têm sido impactados. Esse estudo analisa publicações científicas que investigam as maneiras como a doença afetou as dinâmicas de vida de cuidadores familiares de crianças com SCZ. Realizou-se uma revisão integrativa de literatura consultando as bases de dados PubMed, Biblioteca Virtual em Saúde e Embase. Após as etapas de triagem, foram identificados 31 artigos. Os principais resultados foram agrupados em quatro categorias: a) impactos sociais que evidenciaram mudanças nas relações familiares, nos projetos de vida e no convívio social; b) impactos subjetivos - sentimentos de resiliência, solidão, luto, sobrecarga, medo, incerteza e relação com a espiritualidade; c) impactos econômicos e materiais - perda de renda, aumento de despesas, mudança de moradia e desemprego e d) impactos na saúde - despreparo dos serviços, renúncia do cuidado de si, modificações dos padrões nutricionais e de sono, repercussão para a saúde mental e níveis de estresse, ansiedade e depressão.

Placement of permanent pacemaker in a low-birth-weight infant with congenital heart block: a case report.

One of the rare diseases with a high mortality rate in infants is congenital heart block (CHB) with neonatal lupus erythematosus (NLE) as the most common cause. A permanent pacemaker (PPM) is indicated for symptomatic bradycardia. The choice of PPM in the paediatric population is different from that in the adult population because of several reasons like small size, account of somatic growth, and difference in physiological changes. Here, we present a case in which a 2.6 kg and 45 days old baby with CHB secondary to NLE was successfully treated with a single-chambered adult-sized PPM with epicardial lead. According to our knowledge, this is the smallest baby in Pakistan in which PPM has been implanted.

Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.

Congenital cataract is one of the most genetically heterogeneous ocular conditions with different genes involved in its etiology. Here, we describe the analysis of a new candidate gene of a congenital bilateral cataract associated with polymalformative syndrome, moderate global developmental delay, microcephaly, axial hypotonia, intrauterine growth restriction and facial dysmorphism for two affected siblings. Molecular analysis included exome sequencing and genome wide homozygosity mapping revealed a region of homozygosity shared by the two affected siblings at 10q11.23. The new C10orf71 gene was included in this interval and direct sequencing of this gene revealed an already described homozygous c. 2123T > G mutation (p. L708R) for the two affected subjects. Interestingly, we revealed in contrast a 4-bp deletion on the 3'-splicing acceptor site of intron 3-exon 4, namely defined as IVS3-5delGCAA. The C10Orf71 gene expression analysis using RT-PCR showed an expression pattern in different fetal organs and tissues as well as in leukocytes and confirmed that the IVS3-5delGCAA deletion of the C10orf71 gene is a splicing mutation responsible for the shortening of the C10orf71 protein in the two related patients. The C10orf71 gene has not been described to date as associated to the autosomal recessive phenotype.

The initiation and maintenance of gonadotropin-releasing hormone neuron identity in congenital hypogonadotropic hypogonadism.

Neurons that secrete gonadotropin-releasing hormone (GnRH) drive vertebrate reproduction. Genetic lesions that disrupt these neurons in humans lead to congenital hypogonadotropic hypogonadism (CHH) and reproductive failure. Studies on CHH have largely focused on the disruption of prenatal GnRH neuronal migration and postnatal GnRH secretory activity. However, recent evidence suggests a need to also focus on how GnRH neurons initiate and maintain their identity during prenatal and postnatal periods. This review will provide a brief overview of what is known about these processes and several gaps in our knowledge, with an emphasis on how disruption of GnRH neuronal identity can lead to CHH phenotypes.

Congenital ventricular outflow tract obstructions in Boxer dogs: Results of a 17-year cardiovascular breed screening program in France (3126 dogs).

INTRODUCTION: Ventricular outflow tract obstructions including aortic (AS) and pulmonic stenosis (PS) are the most common canine congenital heart diseases, with Boxer dogs being predominantly affected. This has led to the French Boxer club adopting a mandatory national control program against AS and PS. The objective of this retrospective study was to analyze the results of 17 years of this cardiovascular breed screening program (2005-2021). MATERIALS AND METHODS: The records of untreated and non-anesthetized adult Boxer dogs screened between 2005 and 2021 were retrospectively reviewed. All dogs underwent physical examination and standard transthoracic echocardiography with concomitant ECG tracing. All examinations were reviewed by one single board-certified specialist in cardiology. RESULTS: Out of the 3126 dogs screened during the study period, 3001 dogs (female:male sex ratio = 2.2, median age [IQR] = 1.6 years [1.2-2.1]) were recruited for data analysis. A total of 218 operators were involved in the screening program. For most Boxer dogs (i.e., 93.8% for AS and 94.5% for PS), a single examination was required to obtain a definitive cardiac status, although most operators were non-specialist general practitioners. A left basilar systolic heart murmur was detected in all dogs with AS and PS, but also in 7.4% dogs free of heart diseases. A significantly higher proportion of the latter was detected when operators were board-certified specialists (P<0.001). Lastly, when comparing the start and the end of the breeding program, among dogs diagnosed with AS and PS (n = 364) in a French referral cardiology center, Boxer went from the 1st affected breed by AS to the 3rd, and from the 3rd affected breed by PS to the 6th. CONCLUSION: This 17-year screening program has experienced a strong involvement of veterinarians, breeders, and owners throughout France. This may have contributed to reduce AS and PS prevalence in Boxer dogs at the studied referral cardiology center.

phox2ba: The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes.

CHARGE syndrome typically results from mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7). CHD7 is involved in regulating neural crest development, which gives rise to tissues of the skull/face and the autonomic nervous system (ANS). Individuals with CHARGE syndrome are frequently born with anomalies requiring multiple surgeries and often experience adverse events post-anesthesia, including oxygen desaturations, decreased respiratory rates, and heart rate abnormalities. Central congenital hypoventilation syndrome (CCHS) affects ANS components that regulate breathing. Its hallmark feature is hypoventilation during sleep, clinically resembling observations in anesthetized CHARGE patients. Loss of PHOX2B (paired-like homeobox 2b) underlies CCHS. Employing a chd7-null zebrafish model, we investigated physiologic responses to anesthesia and compared these to loss of phox2b. Heart rates were lower in chd7 mutants compared to the wild-type. Exposure to tricaine, a zebrafish anesthetic/muscle relaxant, revealed that chd7 mutants took longer to become anesthetized, with higher respiratory rates during recovery. chd7 mutant larvae demonstrated unique phox2ba expression patterns. The knockdown of phox2ba reduced larval heart rates similar to chd7 mutants. chd7 mutant fish are a valuable preclinical model to investigate anesthesia in CHARGE syndrome and reveal a novel functional link between CHARGE syndrome and CCHS.

Grasping behavior does not recover after sight restoration from congenital blindness.

We investigated whether early visual input is essential for establishing the ability to use predictions in the control of actions and for perception. To successfully interact with objects, it is necessary to pre-program bodily actions such as grasping movements (feedforward control). Feedforward control requires a model for making predictions, which is typically shaped by previous sensory experience and interaction with the environment.1 Vision is the most crucial sense for establishing such predictions.2,3 We typically rely on visual estimations of the to-be-grasped object's size and weight in order to scale grip force and hand aperture accordingly.4,5,6 Size-weight expectations play a role also for perception, as evident in the size-weight illusion (SWI), in which the smaller of two equal-weight objects is misjudged to be heavier.7,8 Here, we investigated predictions for action and perception by testing the development of feedforward controlled grasping and of the SWI in young individuals surgically treated for congenital cataracts several years after birth. Surprisingly, what typically developing individuals do easily within the first years of life, namely to adeptly grasp new objects based on visually predicted properties, cataract-treated individuals did not learn after years of visual experience. Contrary, the SWI exhibited significant development. Even though the two tasks differ in substantial ways, these results may suggest a potential dissociation in using visual experience to make predictions about an object's features for perception or action. What seems a very simple task-picking up small objects-is in truth a highly complex computation that necessitates early structured visual input to develop.

Management of Congenital Dacryocystocele: A Case Series and Literature Review.

Congenital dacryocystocele presents with a distinct bluish swelling in the medial canthal region in neonates. The authors present four illustrative cases with differing courses and a literature review on dacryocystocele management to raise awareness of the importance of prompt diagnosis, initiation of conservative management, and appropriate referral for surgical assessment. [J Pediatr Ophthalmol Strabismus. 2023;60(3):e31-e34.].

Significance of cytomegalovirus tests after three weeks of life in children with hearing loss.

BACKGROUND: To determine the diagnostic role of viral markers for cytomegalovirus (CMV) when tested after the diagnostically critical period (postnatal 3 weeks) in children with sensorineural hearing loss (SNHL). METHODS: A retrospective review of 104 subjects who underwent CMV diagnostic tests after the critical period of 3 postnatal three weeks but before 24 months of age. Infants included had not passed universal newborn hearing screening tests in at least one ear and thus underwent obligatory follow up audiology testing as well as either exome sequencing or magnetic resonance imaging in cases of SNHL. Our cohort was classified into four subgroups depending on the results from audiological and etiologic diagnostic tests (genetic and radiological tests): congenital CMV (cCMV)-related SNHL (Group 1, n = 9), SNHL with another clear etiology (Group 2, n = 34), and SNHL classified as neither Group 1 nor 2 (Group 3, n = 18). We added age-matched, normal-hearing children (Group 4, n = 43) as a control group. CMV related viral metrics were compared among these four groups. RESULTS: CMV PCR positivity, PCR titers, and culture positivity successfully differentiated Group 1 from Groups 2 and 4. Group 3 showed values of these parameters that were significantly different from Groups 2 and 4, while being more similar to those in Group 1, suggesting that a substantial portion of Group 3 truly had cCMV deafness. A hypothetical formula was developed to predict cCMV infections using logistic regression analysis. CONCLUSION: This is the first study to propose the clinical significance of CMV test results obtained after 3 weeks post-birth in children with SNHL and to suggest how we can utilize them.

Combination of ultra-rapid DNA purification (PURE) and loop-mediated isothermal amplification (LAMP) for rapid detection of Trypanosoma cruzi DNA in dried blood spots.

BACKGROUND: Chagas disease or American trypanosomiasis, a neglected tropical disease, is a persistent Public Health problem in Latin America and other, non-endemic, countries. Point-of-care (POC) sensitive methods are still needed to improve and extend early diagnosis in acute infections such as congenital Chagas disease. The objective of this study was to analytically evaluate in the lab the performance of a qualitative POC molecular test (Loop-mediated isothermal amplification (LAMP), Eiken, Japan) for rapid diagnosis of congenital Chagas disease employing FTA cards or Whatman 903 filter paper as solid supports for small-scale volumes of human blood. METHODOLOGY/PRINCIPAL FINDINGS: We used human blood samples artificially infected with cultured T. cruzi strains to assess the analytical performance of the test in comparison with liquid blood anticoagulated with heparin. The DNA extraction process was evaluated using the ultrarapid purification system PURE manufactured by Eiken Chemical Company (Tokio, Japan) over artificially infected liquid blood or different amounts of dried blood spot (DBS) 3- and 6-mm pieces of FTA and Whatman 903 paper. LAMP was performed on a AccuBlock (LabNet, USA) heater or in the Loopamp LF-160 incubator (Eiken, Japan), and visualization of results was either done at naked eye, using the LF-160 device or P51 Molecular Fluorescence Viewer (minipcr bio, USA). Best conditions tested showed a limit of detection (LoD) with 95% accuracy (19/20 replicates) of 5 and 20 parasites/mL, respectively for heparinized fluid blood or DBS samples. FTA cards showed better specificity than Whatman 903 filter paper. CONCLUSIONS/SIGNIFICANCE: Procedures to operate LAMP reactions from small volumes of fluid blood or DBS in FTA were standardized for LAMP detection of T. cruzi DNA. Our results encourage prospective studies in neonates born to seropositive women or oral Chagas disease outbreaks to operationally evaluate the method in the field.

Decannulation in congenital central hypoventilation syndrome.

RATIONALE: Patients with congenital central hypoventilation syndrome (CCHS) require long-term ventilation to ensure gas exchange and to prevent deleterious consequences for neurocognitive development. Two ventilation modes may be used for these patients depending on their tolerance, one invasive by tracheostomy and the other noninvasive (NIV). For patients who have undergone a tracheostomy, transition to NIV is possible when they meet predefined criteria. Identifying the conditions favorable for weaning from a tracheostomy is critical for the success of the process. OBJECTIVE: The aim of the study was to share our experience of decannulation in a reference center; we hereby describe the modality of ventilation and its effect on nocturnal gas exchange before and after tracheostomy removal. METHODS: Retrospective observational study at Robert Debré Hospital over the past 10 years. The modalities of decannulation and transcutaneous carbon dioxide recordings or polysomnographies before and after decannulation were collected. RESULTS: Sixteen patients underwent decannulation following a specific procedure for transition from invasive to NIV. All decannulations were successful. The median age at decannulation was 12.6 [9.4; 14.1] years. Nocturnal gas exchange was not significantly different before and after decannulation, while expiratory positive airway pressure and inspiratory time increased significantly. An oronasal interface was chosen in two out of three patients. The median duration of hospital stay for decannulation was 4.0 [3.8; 6.0] days. CONCLUSION: Our study underlines that decannulation and transition to NIV are achievable in CCHS children using a well-defined procedure. Patient preparation is crucial to the success of the process.

Massive mature cystic teratoma of the head and neck, masquerading as a glial choristoma, causing respiratory compromise of a neonate.

Glial choristoma of the head and neck is a rare, benign congenital malformation consisting of a mass of heterotopic glial cells. In cases involving the upper aerodigestive tract, this can present with upper airway obstruction. In the acute setting, this can lead to diagnostic challenges due to the broad differential, as well as the additional difficulties in obtaining appropriate imaging and tissue samples due to the potential risk of airway compromise. We present a case of a neonate born with a large heterogenous mass involving the upper aerodigestive tract and multiple deep neck spaces which resulted in upper airway compromise requiring emergency surgical intervention in the form of a paediatric tracheostomy. We will discuss the histological findings which initially suggested a glial choristoma, work-up and treatment of this patient with the aim of supplementing the limited existing clinical knowledge of this congenital anomaly and understanding the implications of a paediatric tracheostomy in our setting.

Long-term home mechanical ventilation using a noninvasive ventilator via tracheotomy in patients with myasthenia gravis: a case report and literature review.

Neuromuscular diseases (NMD) are indications for long-term home mechanical ventilation (HMV). Noninvasive ventilation is preferred to HMV. However, invasive mechanical ventilation (IMV) is more appropriate if the patient has uncontrollable airway secretions, the possibility of aspiration, failure to wean, or severe weakness of the respiratory muscles. But if the patient undergoes multiple intubation or tracheotomy, it will be more painful and unbearable. For some end-stage NMD patients who need long-term tracheostomy, HMV using noninvasive ventilator via tracheotomy may be a conservative care option. An 87-year-old male with myasthenia gravis underwent repeated IMV and failed to wean. We used a noninvasive ventilator connected to a tracheostomy tube for mechanical ventilation. One and a half years later, the patient weaned successfully. However, there was a lack of evidence-based medicine and standardized guidelines in such areas as indications, contraindications, and ventilator parameter setting. For the systematic review, a literature search was performed in PubMed, Embase, Cochrane, and CNKI (China National Knowledge Infrastructure) to identify reported cases of using noninvasive ventilator in patients undergoing tracheostomy. A total of 72 cases who performed ventilation via tracheotomy tube were identified. The main diagnoses included NMD, chronic obstructive pulmonary disease (COPD), pneumonia, and congenital central hypoventilation syndrome (CCHS). Indications included dysfunctional ventilatory weaning response (DVWR), apnea and cyanosis. Clinical outcome was as follows: 33 patients were weaned, and 24 patients underwent HMV. A total of 288 cases who performed ventilation through the mask after blocking the tracheostomy tube were identified. The primary diagnoses included COPD, NMD, thoracic restriction, spinal cord injured (SCI), and CCHS. Indications included DVWR, apnea and cyanosis, routine weaning. Clinical outcome was as follows: successful tracheostomy tube decannulations were performed in 254 patients and failed in 33 patients. So, in patients requiring HMV, selection of noninvasive ventilation (NIV) or IMV should be individualized. Tracheostomy preservation should be considered in some patients with advanced NMD if there is respiratory muscle weakness or the risk of aspiration. And attempts can be made to use a noninvasive ventilator because of its advantages of portability, ease of operation, and low cost. Noninvasive ventilators can be used in patients with tracheotomy, whether direct connection tracheotomy or mask ventilation after the tube is capped, especially in weaning and tracheostomy tube decannulation.