Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 35
Filter
1.
J Insect Physiol ; 155: 104634, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38599545

ABSTRACT

Mormon cricket eggs can remain diapausing in soil for multiple years without forming an embryo. I investigated whether embryonic development was dependent on the number of annual cycles since the egg was laid, duration of the summer period (forcing), or duration of the winter period (chilling). Male and female Mormon crickets collected in Arizona and Wyoming were paired in the lab. For each mating pair, sibling eggs were incubated 12 weeks, eggs with fully developed embryos removed, and the remaining eggs were split evenly among three treatments: a long cold period and a long warm period; a short cold period and a long warm period; and a short cold period and a short warm period, which respectively completed 2 annual cycles, 3 cycles, and 4 cycles in 60 calendar weeks. In each cycle over nine years, developed eggs and eggs that appeared inviable were counted and removed. For each mating pair, I used survival analyses to test for differences in 1) the number of annual cycles, 2) the warm period duration, and 3) the cold period duration required for the embryos to develop. For eight of 11 mating pairs, one of the three factors was not excluded as a determinant of the phenology of embryonic development. Duration of the warm period was not rejected in seven of 11 cases. Duration of the warm period required for 50 % of the eggs to develop ranged from 84 to 144 weeks. In one case from Arizona, the duration of the cold period was the only factor not rejected. Median chill time was 60 weeks, which is also more than one year. Despite this exception, I conclude that duration of the warm period is typically the factor that determines timing of embryonic development for Mormon crickets. For these two high elevation populations, median forcing or chilling exceeded one year.


Subject(s)
Diapause, Insect , Gryllidae , Animals , Gryllidae/physiology , Gryllidae/embryology , Female , Male , Arizona , Diapause, Insect/physiology , Seasons , Embryo, Nonmammalian/physiology , Embryonic Development , Wyoming , Time Factors
2.
Am J Med Genet A ; 194(7): e63604, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38511879

ABSTRACT

Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo-auriculo-vertebral spectrum, and hemifacial microsomia. There has been one previously published case of a patient carrying a 14q22.3 duplication that included OTX2 with hemifacial microsomia who also developed medulloblastoma. Here, we present a case of a 6-year-old girl with a history of delayed development who was diagnosed with medulloblastoma. Genetic evaluations revealed that she inherited a germline duplication of 14q22.3, which included OTX2. This genetic alteration was passed down from her mother, who also had a history of delayed development. Results from other genetic testing, including exome sequencing, fragile X syndrome, and mtDNA testing, were negative/normal. This is the second report of a 14q22.3 duplication that included OTX2 in a patient with medulloblastoma. Further studies are necessary to establish a clear association.


Subject(s)
Medulloblastoma , Otx Transcription Factors , Humans , Otx Transcription Factors/genetics , Female , Medulloblastoma/genetics , Medulloblastoma/pathology , Child , Chromosomes, Human, Pair 14/genetics , Cerebellar Neoplasms/genetics , Cerebellar Neoplasms/pathology , Cerebellar Neoplasms/diagnosis , Chromosome Duplication/genetics
3.
Zygote ; 31(6): 588-595, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37955175

ABSTRACT

Embryos of optimal development reach blastocyst stage 116 ± 2 h after insemination. Usable D7 blastocysts represent nearly 5% of embryos in IVF with acceptable pregnancy and live birth rates, however data are still limited. Therefore, this study aimed to analyze the ongoing pregnancy rate (OPR) of D7 blastocysts in single euploid frozen embryo transfer (FET) cycles. An observational study was performed including 1527 FET cycles with blastocysts biopsied on D5 (N = 855), D6 (N = 636) and D7 (N = 36). Blastocysts were classified as good (AA/AB/BA), fair (BB) or poor (AC/BC/CC/CA/CB) (Gardner scoring). FETs were performed in natural cycles (NC) or hormone replacement therapy (HRT) cycles. Patient's age differed significantly between D5, D6 and D7 blastocysts FET cycles (33.2 ± 5.6, 34.4 ± 5.3 and 35.9 ± 5.2, P < 0.001). OPRs were higher when D5 euploid blastocysts were transferred compared with D6 and D7 (56.0% vs. 45.3% and 11.1%, P < 0.001). Poor quality blastocysts were predominant in D7 blastocyst FET cycles (good quality: 35.4%, 27.2%, 5.6%; fair quality: 52.1%, 38.5%, 11.1%; poor quality: 12.5%, 34.3%, 83.3%, P < 0.001 for D5, D6 and D7 blastocysts; respectively). OPR was significantly reduced by D7 blastocyst FETs (OR = 0.23 [0.08;0.62], P = 0.004), patient's BMI (OR = 0.96 [0.94;0.98], P < 0.001), HRT cycles (OR = 0.70 [0.56;0.88], P = 0.002) and poor quality blastocysts (OR = 0.33 [0.24;0.45], P < 0.001). OPR is significantly reduced with D7 compared with D5/D6 euploid blastocysts in FET cycles. The older the patient, the more likely they are to have an FET cycle with blastocysts biopsied on D7, therefore culturing embryos until D7 can be a strategy to increase OPR outcomes in patients ≥38 years.


Subject(s)
Embryo Implantation , Embryo Transfer , Female , Humans , Pregnancy , Blastocyst , Pregnancy Outcome , Pregnancy Rate , Retrospective Studies , Adult
4.
Front Public Health ; 11: 1209068, 2023.
Article in English | MEDLINE | ID: mdl-37448657

ABSTRACT

Background: Knowing the relationship between the factors related to home environment and early childhood development (ECD) in Bangladeshi children aged 3 to 4 years would help to find out appropriate interventions for the children with lower ECD outcomes. Therefore, we aimed to understand the relationship between the home environment factors and ECD in rural Bangladeshi children aged 3 to 4 years. Methods: We used data from the Multiple Indicator Cluster Survey (MICS) 2019, and included 7,326 rural children aged 3 to 4 years. The ECD index (ECDI) included four domains: literacy-numeracy, learning, physical and socio-emotional development. If a child met at least three of these four domains, the child was indicated as developmentally "on track". Results: The findings show that 27.4% of rural children missed to reach developmentally on-track while 72.2% of children did not attain the literacy-numeracy domain of ECD. The home environment factors including parental participation in children's activities, was found to be associated with ECD. For instance, reading books to child had 26% (aOR = 1.26, 95% CI = 1.08-1.48), and telling stories to child had 29% (aOR = 1.29, 95% CI = 1.09-1.53) more developmentally on-track in overall ECDI. Similar associations between home environment factors and specific ECD domains were also obtained. We also identified that children aged 4 years, girls, and children of mothers with higher socio-economic status (SES) were higher developmentally on-track than their counterparts. Conclusion: Home environment factors like reading books and telling stories to children were found to be significantly associated with ECD in rural areas of Bangladesh. Our study's findings would assist in implementing the essential public health intervention to enhance the ECD program especially in the rural Bangladeshi context.


Subject(s)
Child Development , Home Environment , Child , Female , Humans , Child, Preschool , Bangladesh/epidemiology , Mothers , Learning
5.
Am J Med Genet A ; 191(6): 1619-1625, 2023 06.
Article in English | MEDLINE | ID: mdl-36905087

ABSTRACT

The p-21-activated kinase 1 (PAK1) protein, encoded by the PAK1 gene, is an evolutionarily conserved serine/threonine-protein kinase that regulates key cellular developmental processes. To date, seven de novo PAK1 variants have been reported to cause the Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD). In addition to the namesake features, other common characteristics include structural brain anomalies, delayed development, hypotonia, and dysmorphic features. Here, we report a de novo PAK1 NM_002576.5: c.1409 T > A variant (p.Leu470Gln) identified by trio genome sequencing (GS) in a 13-year-old boy with postnatal macrocephaly, obstructive hydrocephalus, medically refractory epilepsy, spastic quadriplegia, white matter hyperintensities, profound developmental disabilities, and a horseshoe kidney. This is the first recurrently affected residue identified in the protein kinase domain. Combined assessment of the eight pathogenic PAK1 missense variants reveal that the variants cluster in either the protein kinase or autoregulatory domains. Although interpretation of the phenotypic spectrum is limited by the sample size, neuroanatomical alterations were found more often in individuals with PAK1 variants in the autoregulatory domain. In contrast, non-neurological comorbidities were found more often in individuals with PAK1 variants in the protein kinase domain. Together, these findings expand the clinical spectrum of PAK1-associated IDDMSSD and reveal potential correlations with the affected protein domains.


Subject(s)
Epilepsy , Hydrocephalus , Intellectual Disability , Megalencephaly , Male , Humans , Adolescent , Protein Domains , Protein Kinases , Epilepsy/diagnosis , Epilepsy/genetics , Megalencephaly/diagnosis , Megalencephaly/genetics , Intellectual Disability/genetics , Hydrocephalus/diagnosis , Hydrocephalus/genetics , Quadriplegia/diagnosis , Quadriplegia/genetics , p21-Activated Kinases/genetics , p21-Activated Kinases/chemistry
7.
Anat Rec (Hoboken) ; 306(6): 1558-1573, 2023 06.
Article in English | MEDLINE | ID: mdl-35582737

ABSTRACT

Changes in the structural association of skeletal traits are crucial to the evolution of novel forms and functions. In vertebrates, such rearrangements often occur gradually and may precede or coincide with the functional activation of skeletal traits. To illustrate this process, we examined the ontogeny of African hinge-back tortoises (Kinixys spp.). Kinixys species feature a moveable "hinge" on the dorsal shell (carapace) that enables shell closure (kinesis) when the hind limbs are withdrawn. This hinge, however, is absent in juveniles. Herein, we describe how this unusual phenotype arises via alterations in the tissue configuration and shape of the carapace. The ontogenetic repatterning of osseous and keratinous tissue coincided with shifts in morphological integration and the establishment of anterior (static) and posterior (kinetic) carapacial modules. Based on ex vivo skeletal movement and raw anatomy, we propose that Kinixys employs a "sliding hinge" shell-closing system that overcomes thoracic rigidity and enhances the protective capacity of the carapace. Universal properties of the vertebrate skeleton, such as plasticity, modularity, and secondary maturation processes, contributed to adaptive evolutionary change in Kinixys. We discuss a hypothetical model to explain the delayed emergence of skeletal traits and its relevance to the origins of novel form-to-function relationships.


Subject(s)
Turtles , Animals , Turtles/anatomy & histology , Animal Shells/anatomy & histology , Animal Shells/physiology , Biological Evolution
8.
Cureus ; 14(10): e30095, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36381909

ABSTRACT

A 19-month-old boy presented to the general pediatric clinic with delayed development and multiple nutritional deficiencies, after being exclusively breastfed up to the age of nine months without vitamin D supplementation. Upon examination, imaging studies, and lab tests, the patient was diagnosed with nutritional rickets. The management included supplementation of cholecalciferol, ferrous sulfate, calcium carbonate, and multivitamin drops to support his diet, and was encouraged to follow a healthy balanced diet. Upon follow-up at the age of 20 months, the patient showed slight improvement and was able to walk, while at 22 months, the patient was developmentally up to age, and had a good appetite with a slight increase in weight. Despite the high incidence of nutritional deficiencies, there is still a lack of awareness and late presentations of such cases, which can lead to complications if not detected early. This case demonstrates the importance of prevention of similar cases by early education about adequate nutrition to the patients and caregivers and regular follow-ups with the general practitioner for early detection and early supplementation as required.

9.
Percept Mot Skills ; 129(3): 454-467, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35400211

ABSTRACT

To our knowledge, there are no studies recording the reading eye movements of children born prematurely. We examined the oculomotor patterns during reading of 23 children born prematurely (M age = 7.8, SD = 0.2 years) to compare them with those from two groups of children born at full-term who were matched for chronological age or reading age, respectively. We found the oculomotor reading pattern in children who were preterm to be similar to that of children who were full-term and matched for reading age; this shared pattern was characterized by longer duration of fixations, frequent prosaccades of smaller amplitude and several backward saccades. In contrast, when these two groups were compared to full-term children matched for chronological age, the latter group showed significantly shorter duration of fixations, less frequent saccades and larger amplitude prosaccades. Thus, the oculomotor pattern we observed in 7-year-old children who were either preterm or reading-delayed, relative to their age-matched peers, reflected delayed development of brain areas involved in reading-related eye movements.


Subject(s)
Eye Movements , Reading , Brain , Child , Fixation, Ocular , Humans , Infant, Newborn , Saccades
10.
Article in English | MEDLINE | ID: mdl-35162790

ABSTRACT

PURPOSE: We evaluated the interrater and intrarater reliabilities of the Korean version of the Alberta Infant Motor Scale (K-AIMS). METHODS: For the interrater reliability test, six raters participated in the K-AIMS evaluation using video clips of 70 infants (aged between 0 and 18 months). One rater participated in an intrarater reliability test. Among 70 infants, 46 were born preterm and 24 were born full term. A total of 58 AIMS items were evaluated for supine, prone, sitting, and standing positions. A reliability analysis was conducted using ICC and Fleiss' kappa. RESULTS: The highest Fleiss' kappa was found for the 4-7 months group for sitting (K = 0.701-1.000) and standing (K = 0.721-1.000), while the lowest K was the 3 months or under group for standing (K = 0.153-1.000). We found higher Fleiss' kappa statistics when all infants were evaluated without grouping for the three positions (K = 0.727-1.000), except standing (K = 0.192-1.000), for the interrater analysis. CONCLUSION: Our results demonstrate the good reliability for the Korean version of the AIMS for Korean infants (preterm and full term).


Subject(s)
Child Development , Alberta , Humans , Infant , Infant, Newborn , Reproducibility of Results
11.
Brain Behav Immun ; 100: 121-133, 2022 02.
Article in English | MEDLINE | ID: mdl-34808292

ABSTRACT

Immune dysregulation has been found to be related to a diagnosis of autism spectrum disorder (ASD). However, investigations in very early childhood examining immunological abnormalities such as altered neonatal cytokine/chemokine profiles in association with an aberrant developmental trajectory, are sparse. We assessed neonatal blood spots from 398 children, including 171 with ASD, which were subdivided according to severity (121 severe, 50 mild/moderate) and cognitive/adaptive levels (144 low-functioning, 27 typical to high-functioning). The remainder were 69 children with developmental delay (DD), and 158 with typical development (TD), who served as controls in the Childhood Autism Risks from Genetics and the Environment (CHARGE) study. Exploratory analysis suggested that, in comparisons with TD and DD, CTACK (CCL27) and MPIF-1 (CCL23), respectively, were independently associated with ASD. Higher neonatal levels of CTACK were associated with decreased odds of ASD compared to TD (odds ratio [OR] = 0.40, 95% confidence interval [Cl] 0.21, 0.77), whereas higher levels of MPIF-1 were associated with increased odds of ASD (OR = 2.38, 95% Cl 1.42, 3.98) compared to DD but not to TD. MPIF-1 was positively associated with better scores in several developmental domains. Dysregulation of chemokine levels in early life can impede normal immune and neurobehavioral development, which can lead to diagnosis of ASD or DD. This study collectively suggests that certain peripheral chemokines at birth are associated with ASD progression during childhood and that children with ASD and DD have distinct neonatal chemokine profiles that can differentiate their diagnoses.


Subject(s)
Autism Spectrum Disorder , Autistic Disorder , Autism Spectrum Disorder/diagnosis , Case-Control Studies , Chemokines , Child , Child, Preschool , Developmental Disabilities/diagnosis , Humans , Infant, Newborn
12.
Pan Afr Med J ; 40: 85, 2021.
Article in English | MEDLINE | ID: mdl-34909074

ABSTRACT

Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. The present case report is of a baby girl of 17 months suspected case of RSTS, presented with all the features of RSTS. Delay in the acquisition of skills and development were the chief complaints. We designed a 12-week treatment regimen that concentrated mainly on transitions using principles of neurodevelopmental therapy. Gross motor function measure (GMFM 88) was taken pre- and post-treatment which showed tremendous improvement. This is the first study on the role of physiotherapy in RSTS.


Subject(s)
Dwarfism , Rubinstein-Taybi Syndrome , CREB-Binding Protein/genetics , Female , Humans , Infant , Mutation , Phenotype , Physical Therapy Modalities , Rubinstein-Taybi Syndrome/diagnosis , Rubinstein-Taybi Syndrome/genetics
13.
Front Genet ; 12: 676832, 2021.
Article in English | MEDLINE | ID: mdl-34367240

ABSTRACT

OBJECTIVE: Global developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study was to investigate the genetic etiology of a Chinese boy with global developmental delay. METHODS: We combined clinical and imaging phenotyping with trio whole-exome sequencing and Sanger sequencing to the patient and his clinically unaffected parents. A luciferase reporter and immunofluorescence were performed to detect the effect of mutation on transcriptional activity and subcellular localization. RESULTS: The patient presented with several previously unreported symptoms in the patients with HADDS, including hemangiomas, mild hearing abnormalities and tracheomalacia. A novel EBF3 c.589A > G missense mutation (p.Asn197Asp, p.N197D) was identified in the patient but not in his parents. By constructing the plasmid and transfecting HEK293T cells, EBF3-N197D mutant showed impaired activation of luciferase reporter expression of the p21 promoter, and the mutant affected its entry into the nucleus. CONCLUSION: To the best of our knowledge, this is the first report of EBF3 pathogenic mutation which associated with HADDS in the Chinese population. Our results expand the phenotypes and pathogenic mutation spectrum of HADDS, thus potentially facilitating the clinical diagnosis and genetic counseling of HADDS patients.

14.
Pan Afr Med J ; 37: 349, 2020.
Article in English | MEDLINE | ID: mdl-33738037

ABSTRACT

The 1p36 deletion syndrome results from a heterozygous deletion of the terminal chromosomal band of the short arm of chromosome 1. Monosomy 1p36 is the most common terminal deletion observed in men (1 in 5000 newborns), characterized by distinctive dysmorphia, delayed growth, psychomotor retardation, intellectual deficit, epilepsy and heart defects. Fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH-array) are currently the two best diagnostic techniques. The objective of this work is to take stock of the first Moroccan case of 1p36 deletion and to illustrate the role of the geneticist in the diagnosis and management of this syndrome. There is currently no effective medical treatment for this disease.


Subject(s)
Chromosome Disorders/diagnosis , In Situ Hybridization, Fluorescence , Child, Preschool , Chromosome Deletion , Chromosome Disorders/physiopathology , Chromosomes, Human, Pair 1 , Comparative Genomic Hybridization , Female , Humans , Morocco
15.
Mol Reprod Dev ; 86(12): 1963-1980, 2019 12.
Article in English | MEDLINE | ID: mdl-31579974

ABSTRACT

The aim of this study was to evaluate the effect of putrescine on ovarian activity and the rate of embryonic development in Cynopterus sphinx during delayed development. The result showed the presence of a rate-limiting enzyme, ornithine decarboxylase-1, in both ovary and utero-embryonic unit of C. sphinx suggests a synthesis of putrescine in these sites. The corpus luteum showed increased, whereas utero-embryonic unit showed decreased production of putrescine during delayed development as compared with the normal development. The bat treated in vivo with putrescine during delayed development showed increase in progesterone and estradiol synthesis, correlated with increased expression of luteinizing hormone receptor, steroidogenic acute receptor protein, and 3ß-hydroxysteroid dehydrogenase through extracellular signal-regulated kinase (ERK1/2)-mediated pathway in the ovary; but showed increase in the weight and expression of progesterone receptor (PR), B-cell lymphoma 2, proliferating cell nucleus antigen, and vascular endothelial growth factor proteins in utero-embryonic unit. The in vitro treatment of putrescine showed stimulatory whereas treatment with an inhibitor of putrescine, 2-difluoromethylornithine caused an inhibitory effect on ovarian progesterone synthesis and cell proliferation, and cell survival in the utero-embryonic unit. In conclusion, the putrescine showed two separate roles during embryonic diapause, high concentration of putrescine in the ovary may support corpus luteum and basal synthesis of progesterone, whereas a low level of putrescine causes retarded embryonic development by inhibiting cell proliferation in the utero-embryonic unit. The bat treated with putrescine either directly promotes cell proliferation, cell survival, and angiogenic activities or acts indirectly increasing PR on utero-embryonic unit thereby activating development in delayed embryo in C. sphinx.


Subject(s)
Chiroptera/embryology , Diapause/drug effects , Embryo, Mammalian/embryology , Embryonic Development/drug effects , Gene Expression Regulation, Developmental/drug effects , Ovary/metabolism , Putrescine/pharmacology , Animals , Female
16.
Article in Korean | WPRIM (Western Pacific) | ID: wpr-787363

ABSTRACT

This study was aimed to evaluate orofacial morphologies on the cases of developmental disorders of maxillary first molars.Panoramic radiographs, lateral cephalographs, and clinical photos of 2983 children who attended the Pediatric Dental Clinic of Pusan National University Dental Hospital from 2006 to August 2017 were assessed retrospectively. 34 patients were selected whose maxillary first molars were missed or developmentally delayed unilaterally or bilaterally. Demirjian' s method was used for estimating dental age, then which was compared to chronologic age of children. Parameters expressing skeletal and dentoalveolar disharmony were checked and compared with control. Additionally, occlusion relationship was evaluated.Maxillary dental age was significantly delayed compared to chronologic age. Several parameters which show skeletal open-bite tendency and skeletal class III malocclusion with maxillary retrusion were statistically significant. Anterior crossbite and edge-bite were expected in most of these cases, but compensation by occlusion and soft tissue was also verified which might mask skeletal class III tendency.Congenital missed or developmentally delayed maxillary first molars might be related with declined growth of maxilla. If developmental disorders of maxillary first molars were verified during clinical examination, careful monitoring of orofacial growth was necessary during puberty and timed orthopedic and orthodontic intervention were considered.


Subject(s)
Adolescent , Child , Humans , Compensation and Redress , Dental Clinics , Malocclusion , Masks , Maxilla , Methods , Molar , Orthopedics , Puberty , Retrognathia , Retrospective Studies
17.
Mol Reprod Dev ; 84(11): 1155-1167, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28804932

ABSTRACT

Cynopterus sphinx, a fruit bat, undergoes delayed embryonic development during the winter months, a period that corresponds to low levels of progesterone and estradiol synthesis by the ovary. Kisspeptins (KPs) are a group of neuropeptide hormones that act via G-protein coupled receptor 54 (GPR54) to stimulate hypothalamic secretion of Gonadotropin-releasing hormone, thereby regulating ovarian steroidogenesis, folliculogenesis, and ovulation. GPR54 is also expressed in the ovary, suggesting a direct role for KPs in ovarian steroidogenesis. The aim of present study was to determine if a low serum level of KP is responsible for reduced progesterone and estradiol levels during the period of delayed embryonic development in C. sphinx. Indeed, low serum KP abundance corresponded to reduced expression of GPR54 in ovarian luteal cells during the period of delayed development compared to normal development. In vitro and in vivo treatment with KP increased GPR54 abundance, via Extracellular signal regulated kinase and its downstream mediators, leading to increased progesterone synthesis in the ovary during delayed embryonic development. KP treatment also increased cholesterol uptake and elevated expression of Luteinizing hormone receptor and Steroid acute regulatory protein in the ovary, suggesting that elevation in circulating KP during delayed embryonic development may reactivate luteal activity. KPs may also enhance cell survival (BCL-2, reduced Caspase 3 activity) and angiogenesis (Vascular endothelium growth factor) during this period. The findings of this study thus demonstrate a regulatory role for KPs in the maintenance of luteal steroidogenesis during pregnancy in C. sphinx.


Subject(s)
Chiroptera/metabolism , Embryo, Mammalian/metabolism , Embryonic Development/physiology , Gonadal Steroid Hormones/biosynthesis , Kisspeptins/metabolism , Ovary/metabolism , Animals , Female
18.
Gen Comp Endocrinol ; 248: 27-39, 2017 07 01.
Article in English | MEDLINE | ID: mdl-28412388

ABSTRACT

The aim of this study was to evaluate the role of prolactin as a modulator of luteal steroidogenesis during the period of delayed embryonic development in Cynopterus sphinx. A marked decline in circulating prolactin levels was noted during the months of November through December coinciding with the period of decreased serum progesterone and delayed embryonic development. The seasonal changes in serum prolactin levels correlated positively with circulating progesterone (P) level, but inversely with circulating melatonin level during first pregnancy showing delayed development in Cynopterus sphinx. The results also showed decreased expression of prolactin receptor-short form (PRL-RS) both in the corpus luteum and in the utero-embryonic unit during the period of delayed embryonic development. Bats treated in vivo with prolactin during the period of delayed development showed significant increase in serum progesterone and estradiol levels together with significant increase in the expression of PRL-RS, luteinizing hormone receptor (LH-R), steroidogenic acute receptor protein (STAR) and 3ß-hydroxysteroid dehydrogenase (3ß-HSD) in the ovary. Prolactin stimulated ovarian angiogenesis (vascular endothelial growth factor) and cell survival (B-cell lymphoma 2) in vivo. Significant increases in ovarian progesterone production and the expression of prolactin-receptor, LH-R, STAR and 3ß-HSD proteins were noted following the exposure of LH or prolactin in vitro during the delayed period. In conclusion, short-day associated increased melatonin level may be responsible for decreased prolactin release during November-December. The decline in prolactin level might play a role in suppressing P and estradiol-17ß (E2) estradiol levels thereby causing delayed embryonic development in C. sphinx.


Subject(s)
Chiroptera/embryology , Chiroptera/metabolism , Corpus Luteum/metabolism , Embryonic Development/drug effects , Prolactin/pharmacology , Animals , Body Weight/drug effects , Chiroptera/blood , Cholesterol/blood , Corpus Luteum/drug effects , Estradiol/blood , Female , Luteinizing Hormone/metabolism , Melatonin/blood , Organ Size/drug effects , Pregnancy , Progesterone/blood , Prolactin/blood , Proto-Oncogene Proteins c-bcl-2/metabolism , Receptors, Prolactin/metabolism , Sheep , Uterus/drug effects , Uterus/metabolism , Vascular Endothelial Growth Factor A/metabolism
19.
Acta Paediatr ; 106(2): 229-235, 2017 Feb.
Article in English | MEDLINE | ID: mdl-27809371

ABSTRACT

AIM: Neonatal arterial ischaemic stroke (AIS) is an important cause of severe neurological disability. This study aimed to analyse the clinical manifestations and outcomes of AIS patients. METHODS: We enrolled neonates with AIS admitted to Severance Children's Hospital and Gangnam Severance Hospital between 2008 and 2015. AIS was confirmed using magnetic resonance imaging (MRI). We retrospectively reviewed the clinical manifestations, MRI findings, electroencephalography (EEG) findings and neurodevelopmental outcomes. RESULTS: The study comprised 29 neonates (18 boys). The mean follow-up period was 15.4 months (range 6-44 months), and the mean age at diagnosis was 8.1 days. Seizure was the most common symptom (66%). Bilateral involvement was more common than unilateral involvement (52%). The middle cerebral artery was the most commonly identified territory (79%). Abnormal EEG findings were noted in 93% of the cases. Neurodevelopment was normal in 11 (38%) patients, while cerebral palsy and delayed development were noted in eight (28%) and six (21%) patients, respectively. Patients with bilateral involvement were very likely to have abnormal neurodevelopmental outcomes. CONCLUSION: Our study showed that abnormal neurodevelopmental outcomes were very likely after cases of neonatal AIS with bilateral involvement, and clinicians should consider early and more effective interventions in such cases.


Subject(s)
Cerebral Infarction/complications , Neurodevelopmental Disorders/etiology , Cerebral Infarction/diagnostic imaging , Child, Preschool , Electroencephalography , Female , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Neurodevelopmental Disorders/diagnostic imaging , Neuroimaging , Retrospective Studies
20.
J Clin Diagn Res ; 10(5): AC06-8, 2016 May.
Article in English | MEDLINE | ID: mdl-27437200

ABSTRACT

INTRODUCTION: Majority of the developmental delays in children are non-syndromic and they are believed to have an underlying DNA damage, though not well substantiated. Hence the present study was carried out to find out if there is any increased DNA damage in children with non-syndromic developmental delay by using the comet assay. AIM: The present case-control study was undertaken to assess the level of DNA damage in children with non syndromic developmental delay and compare the same with that of age and sex matched controls using submarine gel electrophoresis (Comet Assay). MATERIALS AND METHODS: The blood from clinically diagnosed children with non syndromic developmental delay and controls were subjected for alkaline version of comet assay - Single cell gel electrophoresis using lymphocytes isolated from the peripheral blood. The comets were observed under a bright field microscope; photocaptured and scored using the Image J image quantification software. Comet parameters were compared between the cases and controls and statistical analysis and interpretation of results was done using the statistical software SPSS version 20. RESULTS: The mean comet tail length in cases and control was 20.77+7.659µm and 08.97+4.398µm respectively which was statistically significant (p<0.001). Other comet parameters like total comet length and % DNA in tail also showed a statistically significant difference (p < 0.001) between cases and controls. CONCLUSION: The current investigation unraveled increased levels of DNA damage in children with non syndromic developmental delay when compared to the controls.

SELECTION OF CITATIONS
SEARCH DETAIL
...