Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

PURPOSE: YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases. METHODS: We report 3 unrelated individuals with rare homozygous missense variants in YKT6 who exhibited neurological disease with or without a progressive infantile liver disease. We modeled the variants in Drosophila. We generated wild-type and variant genomic rescue constructs of the fly ortholog dYkt6 and compared their ability in rescuing the loss-of-function phenotypes in mutant flies. We also generated a dYkt6KozakGAL4 allele to assess the expression pattern of dYkt6. RESULTS: Two individuals are homozygous for YKT6 [NM_006555.3:c.554A>G p.(Tyr185Cys)] and exhibited normal prenatal course followed by failure to thrive, developmental delay, and progressive liver disease. Haplotype analysis identified a shared homozygous region flanking the variant, suggesting a common ancestry. The third individual is homozygous for YKT6 [NM_006555.3:c.191A>G p.(Tyr64Cys)] and exhibited neurodevelopmental disorders and optic atrophy. Fly dYkt6 is essential and is expressed in the fat body (analogous to liver) and central nervous system. Wild-type genomic rescue constructs can rescue the lethality and autophagic flux defects, whereas the variants are less efficient in rescuing the phenotypes. CONCLUSION: The YKT6 variants are partial loss-of-function alleles, and the p.(Tyr185Cys) is more severe than p.(Tyr64Cys).

Efficacy and safety of deuruxolitinib, an oral selective Janus kinase inhibitor, in adults with alopecia areata: Results from the Phase 3 randomized, controlled trial (THRIVE-AA1).

BACKGROUND: Alopecia areata (AA) is a hair loss disorder that can seriously impact quality of life. Janus kinase (JAK) inhibitors, including deuruxolitinib, have previously demonstrated significant hair regrowth in AA. OBJECTIVE: The Phase 3 THRIVE-AA1 randomized, double-blinded, placebo-controlled trial (NCT04518995) evaluated the safety and efficacy of the oral JAK1/JAK2 inhibitor deuruxolitinib in adult patients with AA. METHODS: Patients aged 18-65 years with ≥50% hair loss were randomized to deuruxolitinib 8 mg twice daily, deuruxolitinib 12 mg twice daily, or placebo for 24 weeks. The primary end point was the percentage of patients achieving a Severity of Alopecia Tool score ≤20. A key secondary end point was the percentage of satisfaction of hair patient-reported outcome responders. RESULTS: Significantly higher proportions of patients taking deuruxolitinib met the primary end point (8 mg 29.6%; 12 mg 41.5% versus placebo 0.8%). Both deuruxolitinib doses achieved significant improvements in all secondary end points versus placebo, including satisfaction of hair patient-reported outcome (8 mg 42.1%; 12 mg 53.0% versus placebo 4.7%). Most treatment-emergent adverse events were mild or moderate, consistent with other oral JAK inhibitors. LIMITATIONS: Further studies are required to understand longer-term safety, efficacy, and impact of treatment cessation. CONCLUSION: Both doses of deuruxolitinib were effective for hair regrowth. Patient satisfaction aligned with hair growth.

Effectiveness of preoxygenation strategies: a systematic review and network meta-analysis.

BACKGROUND: Preoxygenation is universally recommended before induction of general anaesthesia to prolong safe apnoea time. The optimal technique for preoxygenation is unclear. We conducted a systematic review to determine the preoxygenation technique associated with the greatest effectiveness in adult patients having general anaesthesia. METHODS: We searched six databases for randomised controlled trials of patients aged ≥16 yr, receiving general anaesthesia in any setting and comparing different preoxygenation techniques and methods. Our primary effectiveness outcome was safe apnoea time, and secondary outcomes included incidence of arterial oxygen desaturation; lowest SpO2 during airway management; time to end-tidal oxygen concentration of 90%; and [Formula: see text] and [Formula: see text] at the end of preoxygenation. We assessed the quality of evidence according to Grading of Recommendations, Assessment, Development and Evaluation (GRADE) recommendations. RESULTS: We included 52 studies of 3914 patients. High-flow nasal oxygen with patients in a head-up position was most likely to be associated with a prolonged safe apnoea time when compared with other strategies, with a mean difference (95% credible interval) of 291 (138-456) s and 203 (79-343) s compared with preoxygenation with a facemask in the supine and head-up positions, respectively. Subgroup analysis of studies without apnoeic oxygenation also showed high-flow nasal oxygen in the head-up position as the highest ranked technique, with a statistically significantly delayed mean difference (95% credible interval) safe apnoea time compared with facemask in supine and head-up positions of 222 (63-378) s and 139 (15-262) s, respectively. High-flow nasal oxygen was also the highest ranked technique for increased [Formula: see text] at the end of preoxygenation. However, the incidence of arterial desaturation was less likely to occur when a facemask with pressure support was used compared with other techniques, and [Formula: see text] was most likely to be lowest when preoxygenation took place with patients deep breathing in a supine position. CONCLUSIONS: Preoxygenation of adults before induction of general anaesthesia was most effective in terms of safe apnoea time when performed with high-flow nasal oxygen with patients in the head-up position in comparison with facemask alone. Also, high-flow nasal oxygen in the head-up position is likely to be the most effective technique to prolong safe apnoea time among those evaluated. Clinicians should consider this technique and patient position in routine practice. SYSTEMATIC REVIEW PROTOCOL: PROSPERO CRD42022326046.

Effects of higher dietary acid load: a narrative review with special emphasis in children.

Metabolic effects of high diet acid load (DAL) have been studied for years in adults, although only recently in children. Contemporary diets, especially those of Western societies, owe their acidogenic effect to high animal-origin protein content and low contribution of base-forming elements, such as fruits and vegetables. This imbalance, where dietary acid precursors exceed the body's buffering capacity, results in an acid-retaining state known by terms such as "eubicarbonatemic metabolic acidosis," "low-grade metabolic acidosis," "subclinical acidosis," or "acid stress". Its consequences have been linked to chronic systemic inflammation, contributing to various noncommunicable diseases traditionally considered more common in adulthood, but now have been recognized to originate at much earlier ages. In children, effects of high DAL are not limited to growth impairment caused by alterations of bone and muscle metabolism, but also represent a risk factor for conditions such as obesity, insulin resistance, diabetes, hypertension, urolithiasis, and chronic kidney disease (CKD). The possibility that high DAL may be a cause of chronic acid-retaining states in children with growth impairment should alert pediatricians and pediatric nephrologists, since its causes have been attributed traditionally to inborn errors of metabolism and renal pathologies such as CKD and renal tubular acidosis. The interplay between DAL, overall diet quality, and its cascading effects on children's health necessitates comprehensive nutritional assessments and interventions. This narrative review explores the clinical relevance of diet-induced acid retention in children and highlights the potential for prevention through dietary modifications, particularly by increasing fruit and vegetable intake alongside appropriate protein consumption.

Risk factors associated with underweight in children aged one to two years: a longitudinal study.

BACKGROUND: Underweight is a prevalent health issue in children. This study aimed to identify factors associated with underweight in children aged 1-2 years in Hamadan city. Unlike the studies conducted in this field, which are cross-sectional and do not provide information on the effect of age changes on underweight, our longitudinal approach provides insights into weight changes over time. On the other hand, this study focuses on the high-risk age group of 1 to 2 years, which has only been addressed in a few studies. METHODS: In this longitudinal study, 414 mothers with 1 to 2 year-old children referred to the health centers of Hamadan city, whose information is in the SIB system, a comprehensive electronic system, were examined to identify factors related to underweight. The response variable was weight-for-age criteria classified into three categories: underweight, normal weight, and overweight. A two-level longitudinal ordinal model was used to determine the factors associated with underweight. RESULTS: Of the children studied, 201 (48.6%) were girls and 213 (51.4%) were boys. Significant risk factors for underweight included low maternal education (AOR = 3.56, 95% CI: 1.10-11.47), maternal unemployment (AOR = 3.38, 95% CI: 1.05-10.91), maternal height (AOR = 0.85, 95% CI: 0.79-0.92), lack of health insurance (AOR = 2.85, 95% CI: 1.04-7.84), gestational age less than 24 years (AOR = 3.17, 95% CI: 16.28-0.97), child age 12-15 months (AOR = 2.27, 95% CI: 1.37-3.74), and child's birth weight (AOR = 0.63, 95% CI: 0.70-0.58). CONCLUSION: Based on the results of the present study, it seems that the possibility of being underweight among children is more related to the characteristics of mothers; therefore, taking care of mothers can control some of the weight loss of children.

Undernutrition in young children with congenital heart disease undergoing cardiac surgery in a low-income environment.

BACKGROUND: Malnutrition (undernutrition) in children with congenital disease (CHD) is a notable concern, with preoperative and persistent growth failure post-cardiac surgery contributing to poorer outcomes. Poor growth in children with CHD in low-income environments is exacerbated by feeding difficulties, poverty, delayed diagnosis, and late corrective surgery. This study describes and compares the growth of young children with CHD undergoing cardiac surgery in central South Africa from before to 6-months after cardiac surgery. METHODS: Children 30 months and younger, with their mothers, were included in this prospective observational descriptive study. Weight- height-, and head circumference-for-age z-scores were used to identify children who were underweight, stunted and microcephalic. Z-scores for growth indices were compared from baseline to 3-months and 6-months post-cardiac surgery. Changes in growth over time were calculated using a 95% confidence interval on the difference between means. Linear regression was used to determine the association between growth and development, health-related quality of life and parenting stress respectively. RESULTS: Forty mother-child pairs were included at baseline. Most children (n = 30) had moderate disease severity, with eight children having cyanotic defects. A quarter of the children had Down syndrome (DS). Twenty-eight children underwent corrective cardiac surgery at a median age of 7.4 months. Most children (n = 27) were underweight before cardiac surgery [mean z-score - 2.5 (±1.5)], and many (n = 18) were stunted [mean z-score - 2.2 (±2.5)]. A quarter (n = 10) of the children had feeding difficulties. By 6-months post-cardiac surgery there were significant improvements in weight (p = 0.04) and head circumference (p = 0.02), but complete catch-up growth had not yet occurred. Malnutrition (undernutrition) was strongly associated (p = 0.04) with poorer motor development [Mean Bayley-III motor score 79.5 (±17.5)] before cardiac surgery. Growth in children with cyanotic and acyanotic defects, and those with and without DS were comparable. CONCLUSION: Malnutrition (undernutrition) is common in children with CHD in central South Africa, a low-income environment, both before and after cardiac surgery, and is associated with poor motor development before cardiac surgery. A diagnosis of CHD warrants regular growth monitoring and assessment of feeding ability. Early referral for nutritional support and speech therapy will improve growth outcomes.

Prevalence and determinants of failure to thrive in children with vesico-ureteral reflux.

AIM: To assess the prevalence and determinants of failure to thrive (FTT) among patients with vesico-ureteral reflux (VUR) and evaluating the effects of supplementation on growth in patients with urinary solute losses. METHODS: We retrospectively enrolled 1277 patients with VUR (mean age at diagnosis = 6.5 months). Patients with FTT were screened for renal tubular function impairment (TFI). If fractional excretion of sodium (FENa) >2% or blood bicarbonate <20 mmol/L, supplementation was provided. RESULTS: Among 1277 patients, 56 (4.4%) had FTT. Of these, 42 (75%) presented extrarenal causes of FTT, 3 (5.4%) had chronic kidney disease (CKD), 9 (16.1%) had TFI, and 2 (3.5%) had CKD and TFI. FTT occurred in 8/208 patients (3.8%) with and in 48/1069 patients (4.5%) without (p = 0.68) recurrent urinary tract infections (UTIs). At multiple logistic regression, birthweight <10th percentile, preterm birth, TFI, identified or suspected syndromes and other diseases were predictors of FTT. Eleven (19.6%) patients with FTT had TFI; five with increased FENa and/or acidosis received supplementation and showed catch-up growth. The remaining six patients exhibited spontaneous catch-up growth. CONCLUSION: FTT was found in <5% of children with VUR. It was not determined by recurrent UTIs and was mainly associated with extrarenal causes. Supplementation with sodium and bicarbonates could be useful in selected cases.

Collective Strategies to Equip Graduating Medical Students from Racial/Ethnic Backgrounds Underrepresented in Medicine to Succeed in Residency.

Phenomenon: Trainees from racial/ethnic backgrounds underrepresented in medicine (RE URiM) in the United States face challenges of racism and micro- and macro-aggressions during residency. Many have learned to navigate these challenges through successes and failures, but there is insufficient literature providing these lessons to graduating URiM medical students. Our study among medical school alumni explores strategies to help graduating URiM students prepare for success in residency. Approach: We conducted an online cross-sectional survey (Qualtrics) from February to March 2022. Graduates from a Northeast U.S. medical school identifying as URiM were invited to participate. With emphasis on "thriving" in residency training, we solicited rating-scale responses on preparedness for residency and open-text responses on strategies for success. Standard statistical and text content analysis were used to determine findings and themes. We used Word Cloud technology to further explore word frequency and patterns. Findings: Of the 43 alumni contacted, 23 (53%) completed the survey. Participants were trained in various specialties. We identified three themes with regard to strategies for thriving in residency: (1) importance of identifying and seeking early mentorship; (2) importance of identifying and having diverse forms of support; and (3) need for more education on navigating macro/microaggressions. Insight: While advocating for systems-level interventions to create inclusive learning environments, we highlight the gap in trainee awareness of the importance of seeking early mentorship. Our study provides strategies for graduating URiM medical students to succeed in residency based on respondent experiences. These recommendations should inform medical school curricula.

Apnoeic oxygenation with high flow nasal oxygen for interventional surgery of the larynx and pharynx.

BACKGROUND: Highflow nasal cannula oxygen (HFNO) is known to be used for noninvasive oxygenation in intensive care patients but it has rarely been used in airway management for elective surgery of the upper aerodigestive tract. OBJECTIVES: HFNO offers opportunities of a tubeless oxygenation system which is easy to handle and not limited only on surgery of the endolarynx. METHODS: We evaluated this method for oxygenation during brief interventional procedures of the larynx and pharynx in 92 adult patients for safety and intraoperative complications. The need of secondary endotracheal intubation and limiting comorbidities as pulmonal and cardiac diseases were documented. RESULTS: HFNO showed a good safety profile concerning saturation and hypercapnia. Oxygen desaturation below 90% occurred only in 5 patients, mask ventilation led to quick recovery except in one patient who was secondary intubated. A significant influence of the body mass index on the minimal O2 saturation was shown (p < 0,001) so that a possible limitation of the method exists here. Comorbidities were grouped into the ASA classification. There was a significant difference between ASA I/II and ASA III patients in terms of minimum O2saturation. CONCLUSION: We conclude that HFNO may hold great promise for changing ventilator technique in general anesthesia, particularly in short elective laryngeal and pharyngeal surgery. Safety and feasibility were proven in this study.

An evaluation of survive and thrive: a 10-week group psychoeducational course for adult interpersonal trauma survivors in Scotland.

Emerging evidence supports a phased approach to trauma treatment, including manualised group-based interventions, to facilitate symptom reduction resulting from complex trauma sequelae. This study investigates the efficacy of Survive and Thrive, a 10-week group psychoeducational course for adult survivors of interpersonal trauma. Between August 2019 and February 2022, participants were enrolled on the course. The Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) and Difficulties in Emotion Regulation Scale-Short Form (DERS-SF) were administered pre-intervention and immediately post-intervention. In addition, thematic analysis was applied to qualitative feedback. Results revealed significant reductions in CORE-OM and DERS-SF scores post-intervention, with minimal variability in scores attributed to group delivery (either face-to-face or online). The thematic analysis demonstrated that normalising trauma symptoms and providing coping skills positively impacted participants' experiences. At the same time, the breadth and nature of the content were observed to be an occasional barrier to engagement. In summary, this study proposes that group-based psychoeducational interventions are generally effective for those with mild-to-moderate symptoms of complex trauma. However, further evidence is needed to offer more nuanced recommendations for identifying individuals who may benefit the most from these interventions.

External validation of the iScore, ASTRAL score, DRAGON score, and THRIVE score and development of a nomogram to predict outcome in patients with large vessel occlusion-acute ischemic stroke.

OBJECTIVE: This study aimed to validate the iScore, ASTRAL score, DRAGON score, and THRIVE score for assessing large vessel occlusion-acute ischemic stroke (AIS-LVO) and establish a predictive model for AIS-LVO patients that has better performance to guide clinical practice. METHODS: We retrospectively included 439 patients with AIS-LVO and collected baseline data from all of them. External validation of the iScore, ASTRAL score, DRAGON score, and THRIVE score was performed. All variables were compared between groups via univariate analysis, and the results are expressed as ORs and 95 % CIs. Independent variables with P < 0.25 were included in the multivariate logistic analysis, and statistically significant differences (P < 0.05) were identified as risk factors for prognosis in AIS-LVO patients. Receiver operating characteristic (ROC) curve analysis and decision curve analysis (DCA) were used to evaluate the predictive value of our model. RESULTS: Our external validation resulted in an iScore under the curve (AUC) of 0.8475, an ASTRAL AUC of 0.8324, a DRAGON AUC of 0.8196, and a THRIVE AUC of 0.8039. In our research, multivariate Cox regression revealed 8 independent predictors. We used a nomogram to visualize the results of the data analysis. The AUC for the training cohort was 0.8855 (95 % CI, 0.8487-0.9222), and that in the validation cohort was 0.8992 (95 % CI, 0.8496-0. 9488). CONCLUSIONS: In this study, we verified that the above scores have excellent efficacy in predicting the prognosis of AIS-LVO patients. The nomogram we developed was able to predict the prognosis of AIS-LVO more accurately and may contribute to personalized clinical decision-making and treatment for future clinical work.

The social work discipline in the management of Failure to thrive in infants and children: an integrated behavioral health approach to pediatric programming.

Failure to thrive (FTT) is a DSM-5/ICD-10 diagnosis which describes infants and children who fail to grow within expected norms. The causes for poor growth are multifactorial and often include psychosocial factors. Social workers are important players in an interdisciplinary team approach to this diagnosis. This research and manuscript focus on the use of an integrated infant mental health pediatric model of practice, and outcomes for one case study. The article will review the social worker's role in the treatment of FTT, effective social work services provided in an integrated behavioral health approach, and a review of a cost-benefit analysis of treatment of FTT in a Primary Care Facility verses a hospital setting.

Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.

Börjeson-Forssman-Lehmann syndrome (BFLS) is an intellectual disability and endocrine disorder caused by plant homeodomain finger 6 (PHF6) mutations. Individuals with BFLS present with short stature. We report a mouse model of BFLS, in which deletion of Phf6 causes a proportional reduction in body size compared with control mice. Growth hormone (GH) levels were reduced in the absence of PHF6. Phf6-/Y animals displayed a reduction in the expression of the genes encoding GH-releasing hormone (GHRH) in the brain, GH in the pituitary gland and insulin-like growth factor 1 (IGF1) in the liver. Phf6 deletion specifically in the nervous system caused a proportional growth defect, indicating a neuroendocrine contribution to the phenotype. Loss of suppressor of cytokine signaling 2 (SOCS2), a negative regulator of growth hormone signaling partially rescued body size, supporting a reversible deficiency in GH signaling. These results demonstrate that PHF6 regulates the GHRH/GH/IGF1 axis.

Editorial: Salutogenic mental health science-A phoenix rising from the pathogenic ashes of psychiatry?

As highlighted by several of the papers featured in this current issue of the Journal, psychiatric research and practice is dominated by a pathogenic focus on understanding the origins of mental ill-health and developing interventions to prevent or treat psychopathology. The World Health Organization has called for a paradigm shift to move away from the almost exclusive focus on the absence of illness towards the promotion of mental, physical and social well-being among those with or at risk of psychiatric disorders. Adoption of a salutogenic approach, which focuses on factors and interventions that promote positive health and improve quality of life, has been heralded as the transformation psychiatry requires to achieve this ambitious aim. Looking forward, salutogenic mental health science should harness the power of longitudinal data and analytical techniques, centre lived experience expertise, and take heed of the cautionary tales of its pathogenic predecessor.

Apnoeic oxygenation in morbid obesity: a randomised controlled trial comparing facemask and high-flow nasal oxygen delivery.

BACKGROUND: Obesity is a risk factor for airway-related incidents during anaesthesia. High-flow nasal oxygen has been advocated to improve safety in high-risk groups, but its effectiveness in the obese population is uncertain. This study compared the effect of high-flow nasal oxygen and low-flow facemask oxygen delivery on duration of apnoea in morbidly obese patients. METHODS: Morbidly obese patients undergoing bariatric surgery were randomly allocated to receive either high-flow nasal (70 L min-1) or facemask (15 L min-1) oxygen. After induction of anaesthesia, the patients were apnoeic for 18 min or until peripheral oxygen saturation decreased to 92%. RESULTS: Eighty patients were studied (41 High-Flow Nasal Oxygen, 39 Facemask). The median apnoea time was 18 min in both the High-Flow Nasal Oxygen (IQR 18-18 min) and the Facemask (inter-quartile range [IQR], 4.1-18 min) groups. Five patients in the High-Flow Nasal Oxygen group and 14 patients in the Facemask group desaturated to 92% within 18 min. The risk of desaturation was significantly lower in the High-Flow Nasal Oxygen group (hazard ratio=0.27; 95% confidence interval [CI], 0.11-0.65; P=0.007). CONCLUSIONS: In experienced hands, apnoeic oxygenation is possible in morbidly obese patients, and oxygen desaturation did not occur for 18 min in the majority of patients, whether oxygen delivery was high-flow nasal or low-flow facemask. High-flow nasal oxygen may reduce desaturation risk compared with facemask oxygen. Desaturation risk is a more clinically relevant outcome than duration of apnoea. Individual physiological factors are likely to be the primary determinant of risk rather than method of oxygen delivery. CLINICAL TRIAL REGISTRATION: NCT03428256.

The effect of intraoperative transnasal humidified rapid-insufflation ventilatory exchange on emergence from general anesthesia in patients undergoing microlaryngeal surgery: a randomized controlled trial.

BACKGROUND: Transnasal humidified rapid-insufflation ventilatory exchange (THRIVE) has received extensive attention for its utility in tubeless anesthesia. Still, the effects of its carbon dioxide accumulation on emergence from anesthesia have not been reported. This randomized controlled trial aimed at exploring the impact of THRIVE combined with laryngeal mask (LM) on the quality of emergence in patients undergoing microlaryngeal surgery. METHODS: After research ethics board approval, 40 eligible patients receiving elective microlaryngeal vocal cord polypectomy were randomly allocated 1:1 to two groups, THRIVE + LM group: intraoperative apneic oxygenation using THRIVE followed by mechanical ventilation through a laryngeal mask in the post-anesthesia care unit (PACU), or MV + ETT group: mechanically ventilated through an endotracheal tube for both intraoperative and post-anesthesia periods. The primary outcome was duration of PACU stay. Other parameters reflecting quality of emergence and carbon dioxide accumulation were also recorded. RESULTS: Duration of PACU stay (22.4 ± 6.4 vs. 28.9 ± 8.8 min, p = 0.011) was shorter in the THRIVE + LM group. The incidence of cough (2/20, 10% vs. 19/20, 95%, P < 0.001) was significantly lower in the THRIVE + LM group. Peripheral arterial oxygen saturation and mean arterial pressure during intraoperative and PACU stay, Quality of Recovery Item 40 total score at one day after surgery and Voice Handicap Index-10 score at seven days after surgery were of no difference between two groups. CONCLUSIONS: The THRIVE + LM strategy could accelerate emergence from anesthesia and reduce the incidence of cough without compromising oxygenation. However, these benefits did not convert to the QoR-40 and VHI-10 scores improvement. TRIAL REGISTRATION: ChiCTR2000038652.

Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.

BACKGROUND: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, in order to summarize the clinical features, epidemiology, and treatment of SDS. METHODS: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS," "SBDS gene" and "inherited bone marrow failure" for relevant articles published from January 2002 to October 2022. In addition, studies published from January 2002 to October 2022 were searched from the Web of Science, PubMed, and MEDLINE databases, using "Shwachman-diamond syndrome" as the keyword. Finally, one child with SDS treated in Tongji Hospital was also included. RESULTS: The clinical features of 156 patients with SDS were summarized. The three major clinical features of SDS were found to be peripheral blood cytopenia (96.8%), exocrine pancreatic dysfunction (83.3%), and failure to thrive (83.3%). The detection rate of SDS mutations was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6, and ELF1 have been reported. The male-to-female ratio was approximately 1.3/1. The median age of onset was 0.16 years, but the diagnostic age lagged by a median age of 1.3 years. CONCLUSIONS: Pancreatic exocrine insufficiency and growth failure were common initial symptoms. SDS onset occurred early in childhood, and individual differences were obvious. Comprehensive collection and analysis of case-related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and promote effective clinical intervention.

Diencephalic syndrome-like presentation of brainstem tumor: a series case-based review.

PURPOSE: Russel described a rare clinical entity known as diencephalic syndrome (DS) in 1951, which was traditionally caused by a neoplasm in the hypothalamic-optic chiasmatic region. DS is characterized by severe emaciation despite adequate or slightly reduced caloric intake, locomotor hyperactivity, euphoria and other minor features. Current evidence suggests that a rare population of children with a similar phenotype may have their tumor located in the posterior fossa instead, defining the DS-like presentation, a rare entity with few cases reported in the literature. METHODS: A thorough search of three databases (PubMed, Ovid Medline, and Ovid Embase) was conducted to identify relevant papers reporting children with DS associated with brainstem tumors. To our knowledge, only seven cases have been documented in the literature. Moreover, we present four of our own cases, focusing on the unusual clinical presentation, the diagnosis process, and the lag time between the initial symptoms and the definitive diagnosis. RESULTS: In this review, the mean lag time between the onset of symptoms and diagnosis was 20.9 months (median: 16 months; range: 1.5-72 months), whereas in our series of cases, the time was 32.5 months (median: 33 months; range: 7-57 months). CONCLUSION: Despite recent significant advances in neuro-oncology diagnostic tools, this mean lag time did not improve when compared with the previous literature review from 1976. Throughout these data, we aim to raise awareness in the hopes of detecting intracranial neoplasms earlier in cases of children with profound emaciation of unknown cause.

Biopsychosocial characteristics of children admitted with failure to thrive.

AIMS: The aim of this study was to characterise and compare the biopsychosocial characteristics of children admitted with failure to thrive (FTT), subdivided into those with underlying medical complexities (categorised as organic FTT - OFTT) and those with none (categorised as non-organic FTT - NOFTT), with a focus on the medical, nutritional, feeding skills and psychosocial domains. METHODS: A retrospective review of medical records was conducted in children admitted with FTT from January 2010 to December 2020. Descriptive statistics were used for data analysis. RESULTS: A total of 353 children were included, with the mean age of presentation 0.82 ± 2.05 years (OFTT 1.16 ± 2.50 years, NOFTT 0.49 ± 1.41 years, P = 0.002). Approximately, half of the children were classified as having OFTT. These children had lower birth weights, were more likely to have a history of intrauterine growth restriction and had longer hospital stays. The NOFTT group had significantly more abnormal feeding strategies identified in their caregivers, whereas the OFTT group had more delayed feeding skills and oral aversion. There was no significant difference in psychosocial domains, with both groups having a comparably high risk of abuse and neglect. CONCLUSIONS: The classification of FTT as non-organic or organic based purely on psychosocial parameters did not reflect the complex nature of FTT within our local population. These groups had different medical variables, and caregiver feeding strategies. A multidisciplinary team approach is recommended for the assessment and intervention for children with FTT to address these domains and the complex interactions between them.

Prevalence and predictive factors of malnutrition in Thai children with congenital heart disease and short-term postoperative growth outcomes.

Background: Growth restriction is still a common problem in children with congenital heart disease (CHD). Evidence demonstrates that performing cardiac surgery in appropriate timing may result in better growth outcome. Aim: To investigate prevalence and associated factors of malnutrition in pediatric patients with CHD who underwent cardiac surgery. In addition, post-operative growth outcomes at two weeks following cardiac surgery were also assessed. Methods: A retrospective cohort study was conducted in pediatric patients who underwent cardiac surgery at Chiang Mai University Hospital between January and September 2014. Results: One hundred patients with a median age of 28.5 months (range 14-62 months) were enrolled. Two-third of these patients had at least one form of malnutrition before receiving surgical treatment while wasting, stunting and combined wasting-stunting accounted for 23%, 28%, and 15% of patients, respectively. Multiple logistic regression analysis demonstrated that congestive heart failure-related symptoms were significantly associated with increasing risk of malnutrition (adjusted OR 4.4; 95% CI 1.78-11.26, p = 0.001). Two weeks after hospital discharge, wasting patients with regardless of stunting had significantly improved weight for height (WHZ) and weight for length Z-scores (WLZ) compared to growth parameters at the time of cardiac surgery, p = 0.012 and p < 0.001, respectively. Conclusion: The prevalence of acute and chronic malnutrition in pediatric patients with CHD who underwent cardiac surgery was very high in this study. Children with congestive heart failure had a four-time at risk of undernutrition. In short-term, cardiac surgery may mitigate acute malnutrition of these patients.