Growth Retardation Research Articles

Non-photochemical quenching (NPQ) is a vital photoprotective mechanism in plants, facilitating the dissipation of excess excitation energy as heat within photosystem II. Combined over expression photoprotection proteins, violaxanthin de-epoxidase (VDE), photosystem II subunit S protein (PsbS) and zeaxanthin epoxidase (ZEP) can accelerate the dynamics of photoprotection during the transition of leaves from sun to shade. However, not all transgenic plants exhibited increased efficiency of dynamic photosynthesis and growth performance in previous studies. To investigate the impact of Arabidopsis VDE, PsbS and ZEP genes (VPZ) on rice, we generated rice transgenic plants. The VPZ lines showed comparable NPQ induction and relaxation rate to those reported in previous studies, enhancing their photoprotective capacity. Nevertheless, they exhibit growth retardation, decreased photosynthetic capacity and reduced biomass accumulation under different light regimes and field conditions. This negative impact on the VPZ rice lines may be caused by the alterations to photochemical quenching under normal light conditions. Alleviating or eliminating the potential factor might help to enhance the growth and biomass accumulation in the VPZ lines.

Background/Objectives: Food protein-induced allergic proctocolitis (FPIAP) is a non-immunoglobulin-E-mediated allergic colitis. Most cases resolve after 1 year of age, but delayed resolution and growth retardation may occur in some refractory cases. We aimed to explore the clinical characteristics, treatment approaches, and outcomes of such pediatric patients. Methods: We retrospectively analyzed 35 patients with refractory FPIAP at our center between January 2015 and January 2025. Patients were categorized into early- and non-early-onset groups according to timing of symptom onset; various clinical data were collected and treatment regimens were monitored. Results: The proportion of patients with growth retardation was significantly higher in the non-early onset group than in the early-onset group (73.3% vs. 35.0%, p = 0.041), whereas hemoglobin levels were higher in the early-onset group (118.95 ± 11.26 g/L vs. 107.93 ± 14.61 g/L, p = 0.017).The proportion of corticosteroid use was significantly lower in the early-onset group (15.0% vs. 60.0%; p = 0.011). During follow-up, among 35 patients, 14 (40%) could not tolerate certain foods, including cow’s milk (100%), eggs (42.9%), and wheat (35.7%). Conclusions: Refractory FPIAP was protracted, with a higher incidence of growth retardation, lower hemoglobin levels, and higher corticosteroid use in the non-early onset group. The optimal treatment approach should be explored.

Pathogenic variants inEPG5have been associated with Vici syndrome (OMIM #242840) characterized by agenesis of the corpus callosum (ACC), cataracts, cardiomyopathy, hypopigmentation, and immunodeficiency as hallmark features. Additional variable features include microcephaly, hypotonia, developmental delay, and growth retardation. Recently, few reports described milder cases with a neurodevelopmental phenotype and less systemic involvement harboringEPG5 variants suggesting a broader clinical spectrum. Herein, we describe seven patients from six unrelated Egyptian familiesin whomexome sequencing identified six homozygous (five novel and one previously reported)EPG5variants. Patients presented with global developmental delay, microcephaly, hypotonia, dystonia, and failure to thrive. Seizures were evident in two patients and showed a variable response to antiepileptic drugs. Fair color of hair and skin was noted in four out of seven patients (57%), while cataracts and cardiomyopathy were observed in one patient each (14%). In addition to ACC, cerebellar and pontine hypoplasia, delayed myelination, and ventricular dilatation were evident in all patients. Interestingly, deep fissure in the frontal lobes, extending from the frontal horn to the frontal pole, was documented in six patients and appears torepresent a characteristic feature associated withEPG5variants.Our study highlights the phenotypic variability associated withEPG5variants and emphasizes the presence of a phenotypic spectrum ranging from the classic severe Vici syndrome to a neurodevelopmental disorder with less systemic manifestations and a longer survival rate.

Inborn errors of immunity (IEI) presenting with immunodeficiency and autoimmunity can illuminate pathways essential for immunocompetence and self-tolerance. We recently characterized a new IEI named MAGIS ("Midline malformations of the brain, Anterior pituitary gland dysfunction, Growth retardation, Immunodysregulation/immunodeficiency, and Skeletal defects") caused by heterozygous germline activating mutations in GNAI2 (encoding the heterotrimeric G-protein, Gαi2). This disorder demonstrates the central role of Gαi2 regulation of chemotaxis in humans and a novel pathway by which G-proteins regulate T-cell activation. Here, we review the clinical features, current genetic and biochemical understanding, and future therapeutic considerations for this new syndromic immune dysregulation disorder.

Commercial feeds formulated for Larimichthys crocea are commonly used in intensive farming of Larimichthys polyactis; however, their nutritional composition is suboptimal for the latter. The study evaluated the effects of dietary chenodeoxycholic acid (CDCA) and ursodeoxycholic acid (UDCA) supplementation on mitigating nutritional mismatch-induced growth retardation and hepatopancreatic–intestinal metabolic disorders in L. polyactis. Fish were fed seven feeds: a commercial feed (control) and feeds supplemented with 300, 600, and 1200 mg/kg of CDCA or UDCA. Results showed that both bile acids (BAs) supplementation improved growth, altered thyroid hormone metabolism, with significant changes in hepatopancreatic–intestinal types of deiodination. Both BAs increased hepatopancreatic energy metabolism and cholic acid synthesis, while inducing hepatopancreatic oxidative damage. Notably, 300 mg/kg CDCA and 600 mg/kg UDCA significantly reduced hepatopancreatic vacuolation and lipid accumulation, which was associated with enhanced protease and lipase activities (p < 0.05). Dietary both BAs supplementation enhanced intestinal antioxidant capacity, but contributed to the inflammation, with 300 mg/kg UDCA improving intestinal mucosal morphology (p < 0.05). These findings suggest that supplementation with dietary 300 mg/kg CDCA, 300 and 600 mg/kg UDCA could alleviate growth restriction and liver–intestinal structural damage caused by nutritional mismatch, reduce hepatic fat accumulation, and enhance intestinal antioxidant capacity of L. polyactis.

Concerning shrimp diseases, including acute hepatopancreatic necrosis disease (AHPND), hepatopancreatic parvovirus (HPV) infection and Enterocytozoon hepatopenaei (EHP) microsporidiosis negatively impact shrimp aquaculture through acute mortality, chronic growth retardation or compromised health that increases susceptibility to concurrent infections. All three diseases damage hepatopancreas, a vital organ for nutrient absorption and growth, though their clinical outcomes differ: AHPND is typically associated with rapid, high mortality, EHP primarily causes chronic production losses and HPV, while currently of lower pathogenic significance, may still impair health under certain conditions. Outbreak severity is often intensified by poor water quality, inadequate farm management, antibiotic misuse and pathogen vectors, leading to substantial economic losses. Timely and accurate diagnosis is therefore critical for effective disease management. This study investigates two convolutional neural network (CNN) architectures, EfficientNet and MobileNet. A curated and preprocessed dataset was used to fine-tune both models with a standardized custom classification head, ensuring a controlled backbone comparison. Experimental results show both architectures achieving over 95% accuracy, with MobileNet providing faster inference suitable for on-site deployment. These findings demonstrate the practical feasibility of lightweight CNN-based diagnostics tools for real-time, scalable, and cost-efficient health monitoring in shrimp aquaculture, bridging the gap between the laboratory-grade performance and field-level usability.

Mandibular prognathism (MP) is the most common type of dentomaxillofacial deformity in East Asian populations. Genetic studies have revealed several MP-associated loci, suggesting that MP could be inherited as familial MP (fMP). However, functional verifications and in-depth mechanistic investigations of these loci are limited. For this study, we recruited 5 fMP families with 17 fMP members and 7 normal members. We first compared the clinical features of the 17 fMP members with 31 nonfamilial MP patients, finding a stronger mandibular overgrowth phenotype in the fMP subjects. Next, we performed whole-exome sequencing analysis with members of the 5 fMP families and singled out a potential fMP-associated pathogenic variant in the CASR gene (namely, rs117375173); the mutation introduces an amino acid substitution (A601G) in exon 7 and confers gain of function in Calcium-Sensing Receptor (CaSR). The rs11735173 variant changes the CaSR protein structure toward a semiactive state, similar to CaSR activated by L-tryptophan (L-Trp). To verify the regulating roles of CASR in mandibular bone growth, we further generated different mouse models with abnormal CaSR function. L-Trp administration effectively activated CaSR/GNAQ expression in vivo and in vitro. The MC3T3-E1 cell line transfected with CaSR with rs117375173 (CaSRA601G) showed increased osteogenic differentiation and collagen synthesis at the transcriptional level. Local injection of L-Trp in the mandible of growing mice significantly increased the mandibular length and BMD, due to activated osteogenic activity and suppressed bone resorption. At the same time, loss of function of CaSR in osteogenic progenitors caused mandibular growth retardation in Gli1-CreER; Casrfl/fl; tdTomatofl/+ mice. In conclusion, our study reveals that abnormal functioning of CaSR affects mandibular bone development and may contribute to the pathogenesis of fMP, providing a theoretical and experimental basis for the early diagnosis of and therapeutic strategies for fMP in clinical practice.

Pre-fired microsporidian spores lose their infectivity in shrimp.

A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders.

Sophora flavescens Aqueous Extract Suppresses Eimeria tenella-Induced Inflammatory Responses and Regulates MAPK Pathway.

The administration of antineoplastic agents to pregnant women requires comprehensive evaluation of fetal risks and therapeutic benefits for the mother. In Japan, there has traditionally been a tendency to uniformly classify such cases as 'contraindicated' when reproductive toxicity data are insufficient. However, a shift toward a more flexible policy has occurred since the approvals of daratumumab and pembrolizumab in 2017. This study quantitatively evaluated the changes in regulatory decisions regarding the administration of antineoplastic agents to pregnant women approved by the Ministry of Health, Labour and Welfare (MHLW) following review by the Pharmaceuticals and Medical Devices Agency (PMDA) of Japan since October 2004 to identify influencing factors and compare decision trends with those of the US Food and Drug Administration (FDA). A total of 129 drugs approved by the PMDA and FDA were analyzed. The evaluation included classification of decisions (contraindicated, warning, benefit-based administration), annual trends (Joinpoint regression), and background factors (logistic regression). Since 2018, the proportion of drugs judged as 'benefit-based administration' increased to 82.5%. Significant positive associations were observed between benefit-based administration and the following predictors:more recent PMDA approval year, monoclonal antibody drug modality (vs small molecules), absence or presence offetal death, and absence or presence of reversible alterations. Fetal growth retardation showed a negative associationwith benefit-based administration; 'unassessable' classifications tended to act as a barrier to decision making. The concordance rate with the FDA was only 12.4%, suggesting systematic differences in decision-making approaches. In recent years, the PMDA has adopted a more flexible approach that prioritizes clinical benefit. Importantly, the presence of assessable information-rather than the absence or presence of risk-was identified as a key factor influencing regulatory decisions. However, this descriptive comparison did not restrict the sample to clinically similar drugs. Therefore, while the observed differences likely reflect regulatory tendencies to some extent, they may also be partially influenced by differences in drug background characteristics.

Pathogenicity difference analysis of novel duck reovirus NY01 between in semi-muscovy duck and shelduck.

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare metabolic bone disease with variable clinical presentation, caused by pathogenic variants in the FGF23 gene. The disease typically manifests in childhood with growth retardation and rickets symptoms, but may also be diagnosed in adolescence or adulthood with atypical symptoms. We present a 14-year and 5-month-old female patient who presented with bilateral sacral insufficiency fractures following a subtle onset without a history of trauma. Diagnostic tests revealed findings consistent with hypophosphatemic rickets and a de novo heterozygous c.526C>T (p.Arg176Trp) variant in the FGF23 gene, leading to a diagnosis of ADHR. The patient had no significant history of rickets during childhood. She had lived for approximately one year with complaints of progressive pain in the lower lumbar region, which worsened with walking and sitting, without receiving a diagnosis. Bilateral sacroiliac insufficiency fractures and hypophosphatemia were detected, and genetic analysis was performed. The patient underwent bilateral sacroiliac fracture fixation by pediatric orthopedics, and phosphate and active vitamin D (calcitriol) therapy was initiated by pediatric endocrinology. Clinical symptoms improved significantly during follow-up. Due to its genetic and clinical heterogeneity, autosomal dominant hypophosphatemic rickets (ADHR) is a disease that can cause delays in diagnosis. The number of cases reported in the literature associated with this variant is limited, and this is, to the best of our knowledge, the first report of an adolescent with ADHR diagnosed with bilateral sacral insufficiency fractures. This case is important for raising awareness of ADHR and highlighting the broad clinical spectrum of the disease. Sharing the diagnostic and treatment processes will be helpful for clinicians encountering this rare disease.

5α-reductase deficiency is a rare autosomal recessive disorder of sex development resulting from mutations in the SRD5A2 gene, which impairs the conversion of testosterone to dihydrotestosterone (DHT). We report a case of a 3-year-old child, firstborn of consanguineous parents, who presented with severe pallor, growth failure, and ambiguous genitalia since birth. He was born preterm with low birth weight and required NICU admission for delayed crying. Initially reared as female due to apparently female genitalia, parental concern arose at 6 months when progressive phallic enlargement and bilateral inguinal swellings were noted. Cytogenetic analysis confirmed a normal 46, XY male karyotype. Bilateral orchidopexy was performed at 1.5 years. Despite three intramuscular testosterone injections, microphallus persisted. Examination revealed moderate anemia, growth retardation, bifid scrotum with pea-sized testes, phallus length 2.5 cm, and penoscrotal hypospadias (EMS 3). Hematological evaluation suggested iron deficiency anemia, necessitating four blood transfusions. The β-hCG stimulation test showed elevated testosterone (250.34 ng/dl) with disproportionately low dihydrotestosterone (2.88 ng/dl) and raised T/DHT ratio(86.92:1), indicating 5α-reductase deficiency as the likely etiology of 46,XY DSD. Molecular genetic testing has been advised. This case highlights the complexity of managing 46,XY DSD with suspected 5α-reductase deficiency, particularly when compounded by systemic comorbidities such as chronic anemia and growth failure. Early diagnosis is crucial for gender assignment decisions, counselling of parents, and planning future surgical and hormonal interventions. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2025;4(Suppl 1): S63]

Arnold-Chiari 1 malformation is a congenital anomaly of the craniovertebral junction, often presenting with diverse neurological, endocrine, and musculoskeletal manifestations. Growth and pubertal delay may coexist with neurological deficits, making early recognition essential. Here we report a 17-year-old male, 3rd issue of non-consanguineous parents, admitted to BMU with growth failure for 6-8 years and progressive difficulty in walking along with gait abnormality for 4 years. He experienced chronic occipital headaches, blurring of vision, and occasional dizziness. Pubertal delay was evident by underdeveloped secondary sexual characteristics, notably scanty facial hair and an underpitched voice. Examination reveals short stature (H-147 cm, SDS -2.6) and delayed puberty (Tanner-P2, left testis 10 ml, right undescended testis palpable in the inguinal region). Neurological signs included dysarthria, tongue fasciculation with wasting, exaggerated deep tendon reflex, plantar extensor, positive ankle clonus, wide-based gait, and other cerebellar dysfunctions. Biochemically, GH deficiency was found. MRI of the spine showed dysplastic occipital condyle with foramen magnum stenosis, cervico-medullary compression indicating Arnold-Chiari 1 malformation. This case illustrates an unusual presentation of chairi-1 malformation with growth retardation and delayed puberty, emphasizing the importance of a multidisciplinary approach for timely diagnosis and management. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2025;4(Suppl 1): S67]

Background 3M syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the cullin 7 ( CUL7 ), obscurin-like 1 ( OBSL1 ), and coiled-coil domain-containing protein 8 ( CCDC8 ) genes and is characterized by pre- and postnatal growth retardation, short stature, dysmorphic facial features, and skeletal anomalies, with normal intelligence. Case presentation In this study, we report a 6-year-old female patient from China diagnosed with 3M syndrome. The patient presented with typical clinical features of growth retardation and short stature, with normal intelligence. The patient’s dysmorphic facial features included relative macrocephaly, a protruding forehead, a triangular face, a pointed chin, a flat nasal bridge, full lips, a long philtrum, and a broad lower jaw. The skeletal survey was normal except for clinodactyly of the fifth fingers of both hands. Growth hormone (GH) deficiency was excluded by normal serum hormone levels and the GH stimulation test results. Whole-exome sequencing identified two heterozygous variants in CUL7 , NM_014780.5: c.1639_1640del (p.Leu547Alafs*6), and NM_014780.5: c.4505T>C (p.Ile1502Thr). Parental Sanger sequencing confirmed these as compound heterozygous variants, with one variant inherited from each parent. Neither variant has been previously reported. The patient has been treated with recombinant human IGF-1 for 2 years since she was 4 years old and has achieved a growth velocity of approximately 6–7 cm per year. Conclusions Herein, we describe a Chinese patient with 3M syndrome caused by novel biallelic pathogenic variants in CUL7 from a non-consanguineous family, expanding the genetic spectrum of CUL7 in the Chinese population.

Klippel-Fiel syndrome (KFS) is a rare congenital disorder characterized by the presence of a triad of short neck, limited neck mobility, and low posterior hairline. A 5-year-old girl of consanguineous parents had limited neck movement and poor growth for three years. Her height was 87cm (SDS -4.6), and her weight was 11kg (SDS-2.8), indicating significant growth retardation. Intelligence was normal for age, but a clinical examination revealed a short neck, limited neck movement, and Sprengel deformity. Although her thyroid function was normal, the growth hormone stimulation test (using clonidine) was borderline low. By karyotyping, a normal female pattern (46, XX) was identified. While the echocardiogram was normal, the ultrasound revealed that the left kidney was absent, along with an infantile uterus. An X-ray of the cervical spine revealed a Sprengel deformity and cervical ribs. Her radiological bone age was delayed. The diagnosis of Klippel-Feil Syndrome was made by using clinical presentation, physical examination, and laboratory investigations. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2025;4(Suppl 1): S59]

Attention-deficit/hyperactivity disorder (ADHD) has a global prevalence of approximately 5.37% among school-age children. Although traditional central nervous system stimulants are practical, adverse effects such as nausea, appetite suppression, sleep disturbances, and growth retardation have motivated increasing interest in digital therapeutics. This review synthesizes evidence from 38 empirical studies published between 2019 and 2025, focusing on hardware advancements, game design, algorithmic approaches, and outcome metrics related to consumer-grade EEG headbands. The quality of evidence is assessed using the PRISMA framework. The findings show: (1) the Muse and NeuroSky series dominate the market; dry-electrode channel counts have increased from 2 to 8 leads, with sampling rates up to 1 kHz; (2) training games predominantly employ Go/No-Go, n-back, and racing feedback paradigms, with an average of eight sessions producing significant improvements on Continuous Performance Tests (CPT) (Hedges g = 0.42); (3) randomized controlled trials (RCTs) of theta/beta ratio neurofeedback demonstrate efficacy comparable to methylphenidate, with effects maintained over 612 months. In summary, consumer EEG devices present benefits in terms of portability, reduced adverse effects, and accessibility for at-home use; however, limitations in current evidence stem from small sample sizes, inadequate blinding procedures, and a lack of personalized intervention strategies. Future work should pursue multicenter RCTs and integrate AI-driven adaptive algorithms and wearable sensing to enable plug-and-play, personalized digital therapeutics.

It is common knowledge that excessive consumption of alcohol by pregnant women may lead to neonatal mortality, a delay in fetal development and serious malformations. In this study, we used the chicken-embryo model to demonstrate the ethanol teratogenic effect on the development of the retina. Forty-nine fertilized eggs were employed in our experiment. As a result, the chicken embryos were injected with varying amounts of ethanol in the air space (10%, 30%, and 50%). The eggs were kept in a humid incubator with a temperature of 37 °C and a humidity level of 60–65%. On the 20th day of incubation, the eggs were cracked and the chicks were examined with their length and body weight taken into account. These operations were followed by the resection of the ocular globes for a histological examination. The eyes were fixed with formalin at 10%. The right eye was sectioned at 5μm with a Leica microtome. Hematoxylin-Eosin staining was, then, applied on the slides, which were also observed under a microscope. The optic-microscopic observation of the ocular samples of each group has revealed that the in ovo ethanol exposure has caused retina changes, including the internal plexiform and the ganglion-cell layers. In treated groups the thickness of these two layers decreased in comparison with the control group. In conclusion, the current findings indicated that treating chicken embryos with ethanol at an early stage resulted in significant abnormalities and a lower embryo survival rate. Ethanol has harmful effects on the embryonic development including growth retardation and ocular abnormalities; this effect is dose-dependent.

Percocypris pingi is an endangered protected fish species in China. Its albino variants exhibit growth retardation and physiological abnormalities. Understanding its albinism mechanism holds significant scientific importance for molecular breeding programs and disease model development. This study integrated transcriptomic and proteomic analyses, combined with histopathological and molecular biological techniques, to systematically compare molecular differences in skin tissues between albino and wild-type P. pingi, with a focus on elucidating the multidimensional regulatory mechanisms underlying skin albinism. Our findings suggest that albinism in P. pingi is synergistically driven by hyperactivation of ubiquitin-mediated proteolysis (which suppressed TYR/TYRP1 enzymatic activity and disrupted the pH homeostasis of melanosomes), and inhibition of calcium signaling (which impeded melanin transport). This discovery provides novel insights into the mechanisms of pigment loss in fish species and offers a valuable reference for molecular breeding of endangered species as well as research on pigmentation-related disorders.