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Cureus May 2024Pituitary stalk interruption syndrome is a triad of thin (<1 mm) or complete absence of the pituitary stalk with either an aplastic or ectopic posterior lobe of the...
Pituitary stalk interruption syndrome is a triad of thin (<1 mm) or complete absence of the pituitary stalk with either an aplastic or ectopic posterior lobe of the pituitary gland and a hypoplastic or absent anterior lobe of the pituitary. Patients present with growth retardation, short height, seizures, intellectual disability, and absence of sexual maturation at the expected time. Here, we presented a case of a 12-year-old male with stunted growth. Upon examination, there was reduced height, more than 3 standard deviations below the average for his chronological age. Laboratory results showed reduced levels of growth hormone and thyrotropin. Dual-energy X-ray absorptiometry revealed osteoporosis, while an X-ray of the wrist for bone age corresponded to seven years. MRI imaging confirmed the classical triad of findings for pituitary stalk interruption syndrome. Consequently, the patient was referred back to the endocrinology clinic for further management.
PubMed: 38872685
DOI: 10.7759/cureus.60232 -
The American Journal of Clinical... Jun 2024The World Health Organization recommends calcium supplementation (1500-2000 mg/d) during pregnancy for women with a low-calcium intake. (Randomized Controlled Trial)
Randomized Controlled Trial
Effects of maternal calcium supplementation on offspring blood pressure and growth in childhood and adolescence in a population with a low-calcium intake: follow-up study of a randomized controlled trial.
BACKGROUND
The World Health Organization recommends calcium supplementation (1500-2000 mg/d) during pregnancy for women with a low-calcium intake.
OBJECTIVES
The purpose of this study was to investigate whether pregnancy calcium supplementation affects offspring blood pressure and growth in The Gambia where calcium intakes are low (300-400 mg/d).
METHODS
Follow-up of offspring born during a randomized controlled trial of pregnancy calcium supplementation (ISRCTN96502494, 1996-2000) in which mothers were randomly assigned to 1500 mg Ca/d (Ca) or placebo (P) from 20 wk pregnancy to delivery. Offspring were enrolled at age 3 y in studies where blood pressure and anthropometry were measured under standardized conditions at approximately 2-yearly intervals. Mean blood pressure and growth curves were fitted for females and males separately, using the longitudinal SuperImposition by Translation and Rotation (SITAR) mixed effects model. This generates 3 individual-specific random effects: size, timing, and intensity, reflecting differences in size, age at peak velocity, and peak velocity through puberty relative to the mean curve, respectively.
RESULTS
Five hundred twenty-three singleton infants were born during the trial (maternal group assignment: Ca/P = 259/264). Four hundred ninety-one were enrolled as children (females: F-Ca/F-P = 122/129 and males: M-Ca/M-P = 119/121) and measured regularly from 3.0 y to mean age 18.4 y; 90% were measured on ≥8 occasions. SITAR revealed differences in the systolic blood pressure and height curves between pregnancy supplement groups in females, but not in males. F-Ca had lower systolic blood pressure than F-P at all ages (size = -2.1 ± SE 0.8 mmHg; P = 0.005) and lower peak height velocity (intensity = -2.9 ± SE 1.1%, P = 0.009). No significant pregnancy supplement effects were seen for other measures.
CONCLUSIONS
This study showed, in female offspring, that pregnancy calcium supplementation may lower systolic blood pressure and slow linear growth in childhood and adolescence, adding to evidence of offspring sexual dimorphism in responses to maternal supplementation. Further research is warranted on the long-term and intergenerational effects of antenatal supplementations. This trial was registered at ISRCTN Registry as ISRCTN96502494.
Topics: Humans; Female; Pregnancy; Male; Dietary Supplements; Blood Pressure; Calcium, Dietary; Follow-Up Studies; Child, Preschool; Adolescent; Gambia; Maternal Nutritional Physiological Phenomena; Adult; Child; Child Development; Prenatal Exposure Delayed Effects; Body Height
PubMed: 38839195
DOI: 10.1016/j.ajcnut.2024.02.025 -
Ecology and Evolution Jun 2024Phenotypic plasticity, the ability of a single genotype to produce different phenotypes under different environmental conditions, plays a profound role in several areas...
Phenotypic plasticity, the ability of a single genotype to produce different phenotypes under different environmental conditions, plays a profound role in several areas of evolutionary biology. One important role is as an adaptation to a variable environment. While plasticity is extremely well documented in response to many environmental factors, there is controversy over how much of that plasticity is adaptive. Evidence is also mixed over how often conspecific populations display qualitative differences in the nature of plasticity. We present data on the reaction norms of growth and maturation to variation in temperature and salinity in male and female sailfin mollies () from three locally adjacent populations from South Carolina (SC). We compare these reaction norms to those previously reported in locally adjacent populations from north Florida (NF). In general, patterns of plasticity in fish from SC were similar to those in fish from NF. The magnitude of plasticity differed; fish from SC displayed less plasticity than fish from NF. This was because SC fish grew faster and matured earlier at the lower temperatures and salinities compared to NF fish. This is a countergradient pattern of variation, in which SC fish grew faster and matured earlier in conditions that would otherwise slow growth and delay maturity. Among fish from both regions, males were much less plastic than females, especially for length at maturity. While there was no detectable heterogeneity among populations from NF, males from one of the SC populations, which is furthest from the other two, displayed a qualitatively different response in age at maturity to temperature variation than did males from the other two SC populations. The pattern of population variation in plasticity within and among regions suggests that gene flow, which diminishes with distance in sailfin mollies, plays a critical role in constraining divergence in norms of reaction.
PubMed: 38826157
DOI: 10.1002/ece3.11482 -
Molecular and Biochemical Parasitology Sep 2024Asexual blood stage culture of Plasmodium falciparum is routinely performed but reproducibly inducing commitment to and maturation of viable gametocytes remains...
Asexual blood stage culture of Plasmodium falciparum is routinely performed but reproducibly inducing commitment to and maturation of viable gametocytes remains difficult. Culture media can be supplemented with human serum substitutes to induce commitment but these generally only allow for long-term culture of asexual parasites and not transmission-competent gametocytes due to their different lipid composition. Recent insights demonstrated the important roles lipids play in sexual commitment; elaborating on this we exposed ring stage parasites (20-24 hours hpi) for one day to AlbuMAX supplemented media to trigger induction to gametocytogenesis. We observed a significant increase in gametocytes after AlbuMAX induction compared to serum. We also tested the transmission potential of AlbuMAX inducted gametocytes and found a significant higher oocyst intensity compared to serum. We conclude that AlbuMAX supplemented media induces commitment, allows a more stable and predictable production of transmittable gametocytes than serum alone.
Topics: Plasmodium falciparum; Culture Media; Humans; Malaria, Falciparum
PubMed: 38823647
DOI: 10.1016/j.molbiopara.2024.111634 -
Journal of Fungi (Basel, Switzerland) May 2024, one of the conidiation center regulatory genes in many filamentous fungi, plays an important role in promoting asexual spores (conidia) maturation. Our recent research...
, one of the conidiation center regulatory genes in many filamentous fungi, plays an important role in promoting asexual spores (conidia) maturation. Our recent research has found that knocking out or overexpressing (a homolog of ) in M7 does not affect the development of its asexual spores like other fungi, but both repress the development of its sexual spores (ascospores). However, the mechanism remains unclear. In this study, the function of on sexual reproduction and secondary metabolism in M7 was confirmed by a complementary experiment. Moreover, the regulatory roles of in modulating the expression of genes involved in sexual reproduction, meiosis, and biosynthesis of pigment and citrinin were analyzed based on the transcriptional data. These results not only contribute to clarifying the regulation of the reproduction and secondary metabolism of spp., but also to enriching the regulation molecular mechanism of reproduction in filamentous fungi.
PubMed: 38786694
DOI: 10.3390/jof10050338 -
MBio Jun 2024Ascospores, forcibly released into the air from perithecia, are the primary inoculum for Fusarium head blight. In , the biological functions of four RNA-dependent RNA...
UNLABELLED
Ascospores, forcibly released into the air from perithecia, are the primary inoculum for Fusarium head blight. In , the biological functions of four RNA-dependent RNA polymerases (RdRPs) () have been reported, but their regulatory mechanisms are poorly understood and the function of is still unknown. In this study, we found that in addition to and , also plays an important role in ascospore discharge, and they all participate in the generation of turgor pressure in a polyol-dependent manner. Moreover, these three genes all affect the maturation of ascospores. Deep sequencing and co-analysis of small RNA and mRNA certified that , , and partly share their functions in the biogenesis and accumulation of exonic small interference RNA (ex-siRNA), and these three RdRPs negatively regulate the expression levels of ex-siRNA corresponding genes, including certain genes associated with ascospore development or discharge. Furthermore, the differentially expressed genes of deletion mutants, those involved in lipid and sugar metabolism or transport as well as sexual development-related transcription factors, may also contribute to the defects in ascospore maturation or ascospore discharge. In conclusion, our study suggested that the components of the -dependent ex-siRNA-mediated RNA interference pathway include at least , , and .
IMPORTANCE
We found that in addition to and , also plays important roles in ascospore maturation and ascospore discharge of . These three RNA-dependent RNA polymerases participate in the biogenesis and accumulation of exonic small interference RNA and then regulate ascospore discharge.
Topics: Spores, Fungal; RNA-Dependent RNA Polymerase; Gene Expression Regulation, Fungal; Fusarium; RNA Interference; Fungal Proteins; RNA, Small Interfering
PubMed: 38752738
DOI: 10.1128/mbio.00377-24 -
BioRxiv : the Preprint Server For... Apr 2024Reducing malaria transmission has been a major pillar of control programmes and is considered crucial for achieving malaria elimination. Gametocytes, the transmissible...
Reducing malaria transmission has been a major pillar of control programmes and is considered crucial for achieving malaria elimination. Gametocytes, the transmissible forms of the parasite, arise during the blood stage of the parasite and develop through 5 morphologically distinct stages. Immature gametocytes (stage I-IV) sequester and develop in the extravascular niche of the bone marrow and possibly spleen. Only mature stage V gametocytes re-enter peripheral circulation to be taken up by mosquitoes for successful onward transmission. We have recently shown that immature, but not mature gametocytes are targets of host immune responses and identified putative target surface antigens. We hypothesize that these antigens play a role in gametocyte sequestration and contribute to acquired transmission-reducing immunity. Here we demonstrate that surface antigen expression, serum reactivity by human IgG, and opsonic phagocytosis by macrophages all show similar dynamics during gametocyte maturation, i.e., on in immature and off in mature gametocytes. Moreover, the switch in surface reactivity coincides with reversal in phosphatidylserine (PS) surface exposure, a marker for red blood cell age and clearance. PS is exposed on the surface of immature gametocytes (as well as in late asexual stages) but is removed from the surface in later gametocyte stages (IV-V). Using parasite reverse genetics and drug perturbations, we confirm that parasite protein export into the host cell and phospholipid scramblase activity are required for the observed surface modifications in asexual and sexual stages. These findings suggest that the dynamic surface remodelling allows (i) immature gametocyte sequestration in bone marrow and (ii) mature gametocyte release into peripheral circulation and immune evasion, therefore contributing to mature gametocyte survival and onward transmission to mosquitoes. Importantly, blocking scramblase activity during gametocyte maturation results in efficient clearance of mature gametocytes, revealing a potential path for transmission blocking interventions. Our studies have important implications for our understanding of parasite biology and form a starting point for novel intervention strategies to simultaneously reduce parasite burden and transmission.
PubMed: 38746342
DOI: 10.1101/2024.04.30.591837 -
International Journal of Legal Medicine May 2024With the undeniable increase in asylum requests from unaccompanied alleged minors, age estimation of living individuals has become an essential part of the routine work...
With the undeniable increase in asylum requests from unaccompanied alleged minors, age estimation of living individuals has become an essential part of the routine work in European forensic centers. This study aims to review the forensic age estimations performed in our center since 2010, to evaluate the state-of-the-art of this practice in Switzerland with the evolution of the methodology according to upcoming recommendations. Our institute's expert reports performed between 2010 and 2022 were retrospectively analyzed. We gathered the following parameters: demographic data, morphological characteristics, alleged age compared with the assessed minimum age, sexual maturation, dental and bone age. When available, we collected personal and family history, medical history, records of torture-related/self-inflicted injuries, and information about eating habits that might affect skeletal development. Data collection amounted to 656 cases. Forensic age estimations ordered by the Swiss Secretariat for Migration (SEM) represented 76.4% of cases, with 23.6% of them ordered by the Court/Public Prosecutor. Most alleged minors were male (94.5%) and came from Afghanistan (53.4%). Adjunction of CT scans of the sternoclavicular joints was necessary in 86.4% of cases. Only 25.2% of our reports concluded on most probable minority, with 55.6% of definite majors; in 19.2% of our cases, minority could not be excluded. This study aspires to further broaden our expertise regarding forensic age estimations. Given the increasing migratory flows, we can expect a notable increase in the frequency of these requests. Consequently, this study aims to promote a multidisciplinary approach and the international standardization of the methodology of these estimations.
PubMed: 38740629
DOI: 10.1007/s00414-024-03254-8 -
JAMA Network Open May 2024Earlier puberty is associated with adverse health outcomes, such as mental health issues in adolescence and cardiometabolic diseases in adulthood. Despite rapid growth...
IMPORTANCE
Earlier puberty is associated with adverse health outcomes, such as mental health issues in adolescence and cardiometabolic diseases in adulthood. Despite rapid growth of the Asian American, Native Hawaiian, and Pacific Islander populations in the US, limited research exists on their pubertal timing, potentially masking health disparities.
OBJECTIVE
To examine pubertal timing among Asian American, Native Hawaiian, and Pacific Islander children and adolescents by disaggregating ethnic subgroups.
DESIGN, SETTING, AND PARTICIPANTS
This retrospective cohort study included Asian American, Native Hawaiian, and Pacific Islander youths aged 5 to 18 years assessed for pubertal development at Kaiser Permanente Northern California, a large, integrated health care delivery system. Follow-up occurred from March 2005, through December 31, 2019. Data were analyzed in October 2023.
EXPOSURE
Race and ethnicity, categorized into 11 ethnic subgroups: Asian Indian, Chinese, Filipino, Japanese, Korean, Native Hawaiian and Pacific Islander, Other South Asian, Other Southeast Asian, Vietnamese, multiethnic, and multiracial.
MAIN OUTCOMES AND MEASURES
Pubertal timing was determined using physician-assessed sexual maturity ratings (SMRs). Outcomes included the median age at transition from SMR 1 (prepubertal) to SMR 2 or higher (pubertal) for onset of genital development (gonadarche) in boys, breast development (thelarche) in girls, and pubic hair development (pubarche) in both boys and girls.
RESULTS
In this cohort of 107 325 Asian American, Native Hawaiian, and Pacific Islander children and adolescents (54.61% boys; 12.96% Asian Indian, 22.24% Chinese, 26.46% Filipino, 1.80% Japanese, 1.66% Korean, 1.96% Native Hawaiian and Pacific Islander, 0.86% Other South Asian, 3.26% Other Southeast Asian, 5.99% Vietnamese, 0.74% multiethnic, and 22.05% multiracial), the overall median ages for girls' pubarche and thelarche were 10.98 years (95% CI, 10.96-11.01 years) and 10.13 years (95% CI, 10.11-10.15 years), respectively. For boys' pubarche and gonadarche, median ages were 12.08 years (95% CI, 12.06-12.10 years) and 11.54 years (95% CI, 11.52-11.56 years), respectively. Differences between subgroups with earliest and latest median age at onset were 14 months for girls' pubarche, 8 months for thelarche, 8 months for boys' pubarche, and 4 months for gonadarche. In general, Asian Indian, Native Hawaiian and Pacific Islander, and Other South Asian subgroups had the earliest ages at onset across pubertal markers, while East Asian youths exhibited the latest onset. Restricting to those with healthy body mass index did not substantially change the findings.
CONCLUSIONS AND RELEVANCE
In this cohort study of Asian American, Native Hawaiian, and Pacific Islander children and adolescents, pubertal timing varied considerably across ethnic subgroups. Further investigation is warranted to assess whether these differences contribute to observed health disparities in adulthood, such as type 2 diabetes and cardiovascular diseases.
Topics: Humans; Adolescent; Female; Male; Asian; Child; Native Hawaiian or Other Pacific Islander; Puberty; Retrospective Studies; Child, Preschool; California; Hawaii; Sexual Maturation; Pacific Island People
PubMed: 38739393
DOI: 10.1001/jamanetworkopen.2024.10253 -
International Journal of Molecular... Apr 2024The mammalian pituitary gland drives highly conserved physiological processes such as somatic cell growth, pubertal transformation, fertility, and metabolism by...
The mammalian pituitary gland drives highly conserved physiological processes such as somatic cell growth, pubertal transformation, fertility, and metabolism by secreting a variety of hormones. Recently, single-cell transcriptomics techniques have been used in pituitary gland research. However, more studies have focused on adult pituitary gland tissues from different species or different sexes, and no research has yet resolved cellular differences in pituitary gland tissue before and after sexual maturation. Here, we identified a total of 15 cell clusters and constructed single-cell transcriptional profiles of rats before and after sexual maturation. Furthermore, focusing on the gonadotrope cluster, 106 genes were found to be differentially expressed before and after sexual maturation. It was verified that , which is specifically expressed in gonadotrope cells, could serve as a novel marker for this cell cluster and has a promotional effect on the synthesis and secretion of follicle-stimulating hormone. The results provide a new resource for further resolving the regulatory mechanism of pituitary gland development and pituitary hormone synthesis and secretion.
Topics: Animals; Rats; Sexual Maturation; Pituitary Gland; Gonadotrophs; Single-Cell Analysis; Male; Female; Biomarkers; Transcriptome; Gene Expression Profiling; Follicle Stimulating Hormone
PubMed: 38731915
DOI: 10.3390/ijms25094694