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Objective To analyze the clinical characteristics of thyroid LCH to enhance understanding of the disease. Methods We retrospectively studied the clinical data from six thyroid LCH patients who hospitalized in Huashan Hospital Affiliated to Fudan University from January 2015 to January 2022.We analyzed the ultrasound and 18F FDG-PET/CT imaging characteristics of thyroid LCH. Results The six patients diagnosed (2 males and 4 females) were between 18 and 58 years old.All patients had diabetes insipidus.MRI revealed thickened pituitary stalk.Two cases had central hypothyroidism, while four cases euthyroidism.Three cases tested positive for thyroid antibodies.Ultrasound showed thyroid nodules of TI-RADS 3 in three cases, TI-RADS 4 in two cases, and 1 with nodular goiter.Ultrasound showed that all sic cases indicated low echogenicity, 5 of which clear boundaries, 4 of which uneven echo distribution, 5 of which irregular shape, and noen has calcification.18F FDG-PET/CT indicated high uptake nodules with SUVmax values all above 10.4 cases were diagnosed by surgical excision and the other 2 by coarse-needle aspiration biopsy.When diagnosed, two cases had liver and thymus involvement respectively.One case had lung and bone involvement respectively.After treatment, 4 cases showed that nodular goiter shrank, while the other two with liver involvement progressed fast and no assessment made. Conclusions Thyroid LCH presented low echogenicity, clear boundaries, irregular shape, without calcification, and high uptake in 18F FDG-PET/CT.A definite diagnosis of pituitary stalk thicking accompanied by thyroid nodules, especially those with hypoechoic and irregular nodules, can be achieved by coarse-needle aspiration biopsy and langerin-specific pathological staining.
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Resumen: El síndrome de interrupción del tallo pituitario es una anomalía congénita que se caracteriza por la demostración neurorradiológica de un tallo pituitario ausente, interrumpido o hipoplásico, adenohipófisis aplásica/hipoplásica y neurohipófisis ectópica. Este síndrome se ha relacionado con formas severas de hipopituitarismo congénito, asociado a múltiples deficiencias de hormonas pituitarias. Los signos y los síntomas perinatales que presentan los pacientes incluyen hipoglucemia hasta en un 61%, ictericia en un 38%, micropene en un 77% y colestasis en un 19%, las convulsiones neonatales se dieron en el 75% de los niños. Durante la infancia suelen tener talla baja y disminución en la velocidad del crecimiento, así mismo pueden presentar retardo en la expresión de los caracteres sexuales secundarios (1). En nuestro caso clínico se trata de un paciente adolescente el cual tenía como manifestaciones clínicas principales, retardo en los caracteres sexuales secundarios, los hallazgos principales que se encontraron en la resonancia magnética nuclear, incluyeron ausencia del tallo hipofisario, neurohipófisis ectópica, localizada adyacente al túber cinereum y adenohipofisis hipoplásica.
Abstract: Pituitary stalk disruption syndrome is a congenital anomaly characterized by neuroradiologic demonstration of an absent, interrupted, or hypoplastic pituitary stalk, aplastic/ hypoplastic adenohypophysis, and ectopic neurohypophysis. This syndrome has been related to severe forms of congenital hypopituitarism, associated with multiple deficiencies of pitu- itary hormones. Perinatal signs and symptoms presented by patients include hypoglycemia in up to 61%, jaundice in 38%, micropenis in 77% and cholestasis in 19%, neonatal seizures occurred in 75% of children. During childhood, they tend to have short stature and a decrease in growth speed, as well as a delay in the expression of secondary sexual characteristics. In our clinical case, an adolescent patient was presented whose main clinical manifestations were delayed secondary sexual characteristics, the main findings were found in nuclear magnetic resonance, including absence of the pituitary stalk, ectopic neurohypophysis, located adjacent to the tuber cinereum and hypoplastic adenohypophys.
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Objective:To explore the difference in antibacterial mechanism between <italic>Coptis chinensis</italic> and<italic> </italic>its<italic> </italic>flower stalk based on secondary metabolites and network pharmacology. Method:Based on the ultraperformance liquid chromatography mass spectrometry（UPLC-MS/MS） detection platform，the secondary metabolites database of <italic>C. chinensis</italic> and its flower stalk（MWDB） was built. The common database of metabolites information and the multivariate statistical analysis were used to study the differences of secondary metabolites between <italic>C. chinensis</italic> and its flower stalk and screen out 18 metabolites of<italic> </italic>the<italic> </italic>flower stalk and 11 metabolites of <italic>C. chinensis</italic> with a high content. BATMAN-TCM database was used to obtain the targets of component action，and their corresponding genes were inquired in the UniProt database. GeneCards was retrieved for antimicrobial genes，and the intersection genes of components and antimicrobials were obtained on Venny platform. Through DAVID gene ontology（GO） enrichment analysis and Kyoto encyclopedia of genes and genomes（KEGG） pathway enrichment analysis，the mechanism of its action was predicted，and the results were visualized through histogram and advanced bubble diagram drawn by GraphPad Prism software and OmicShare database. The protein-protein interaction（PPI） network was constructed by STRING， database and the component-target-pathway network was constructed by Cytoscape 3.7.2 software. The antibacterial differences were compared based on the results of network pharmacology analysis. Result:Through network pharmacology，the antibacterial active components of <italic>C. chinensis</italic> were 5 fewer than that of the flower stalk，55 more antibacterial targets than that of the flower stalk； quercetin and berberine were predicted to be the common components of the antagonistic action of <italic>C. chinensis </italic>and the flower stalk. Key genes involved in antimicrobial action were p38 Mitogen-activated protein kinase 14（MAPK14），catalase（CAT）； malaria and Toll-like receptor signaling pathway were different key pathways involved in antimicrobial activity. Conclusion:<italic>C. chinensis </italic>and the flower stalk mainly exert the antibacterial effect in a multi-target and multi-pathway manner，which can offer new ideas and clues for the study of antibacterial mechanism of<italic> C. chinensis</italic> and the flower stalk，and provide a new development direction for the comprehensive development and rational application of the flower stalk resources.
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Fusarium stalk rot disease (FSR) of maize caused by Fusarium verticillioides (Sacc.) Nirenberg is becoming an important biotic production constraint in many of the major maize growing areas causing substantial yield losses. Inbreds are preferred as parents in hybrid development owing to homozygous nature and high heterotic ability. Double haploid (DH) technology has emerged as a significant milestone. A total of 339 DH lines were generated from two inbred lines, VL1043 (susceptible) and CM212 (resistant), through in vivo haploid induction method. The 339 DH lines along with parents were phenotyped for their response to the FSR at the College of Agriculture, V. C. Farm, Mandya, India during summer, kharif and rabi seasons of the 2019–2020. Best linear unbiased predictors (BLUPs) were estimated for the FSR disease scores over three seasons. A wide range of BLUP scores of three to nine indicated the presence of higher variation for response of DH lines to FSR disease. The higher estimates of standardized range (1.31) and phenotypic coefficient of variation (19.80) also displayed higher variability. Nine lines were moderately resistant and 188 exhibited moderately susceptible reaction. The distribution of DH lines was positively skewed (1.34) and platykurtic (2.31) which suggested complementary epistasis and involvement of large number of genes in the disease expression.
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Objective:To establish a method for qualitative analysis of components in Perilla frutescens leaves and stalks by liquid chromatography-mass spectrometry (LC-MS)，so as to explore the substance basis of pharmacodynamics differences between P.frutescens leaves and stalks.Method:P. frutescens leaves and stalks were extracted by 80% methanol-water ultrasound. The samples were analyzed by UPLC-Q-Exactive-Orbitrap-MS comprehensively. Halo-C18 column (2.1 mm×100 mm，2.7 μm) was used for gradient elution with 0.05% formic acid aqueous-0.05% acetonitrile formate as mobile phase in positive and negative ion modes. The flow rate was 0.3 mL·min-1，the column temperature was 40 ℃，and the injection volume was 5 μL.Result:The chemical compound in P. frutescens was deduced and identified based on the retention time of chromatography，and the exact molecular weight，excimer ion peaks，fragment ions and reference materials in Xcalibur software. The chemical composition of P. frutescens was identified by Mass Frontier 7.0 software. Totally 4 amino acids，7 phenylpropanoids，10 flavonoids，12 triterpenoids，7 organic acids，4 fatty acids，10 unknown compounds and 54 compounds were identified. Among them，6 triterpene acids, including glochidone, were identified in P. frutescens for the first time. The structures of five characteristic compounds were analyzed. There were 45 constituents in P.frutescens leaves and 32 constituents in P. frutescens stalks. They had 23 common constituents.Conclusion:LC-MS can identify the components of P. frutescens rapidly and effectively. This study provides an important theoretical basis for the quality control of different parts of P. frutescens and the development and utilization of P. frutescens.
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@#In the progress of retinal angiogenesis, sprouting angiogenesis plays an important role in retinal normal development and neovascular diseases. The structural and functional integrities of vascular endothelial cells are essential condition of sprouting angiogenesis. Vascular endothelial cells possess various subtypes, each of which plays a different role in sprouting angiogenesis. Many mechanisms participate in the regulation of endothelial cells under physiological and pathological conditions, such as biological signaling pathway, metabolism, immune inflammation and non-coding RNA. In this review, we provided a brief overview of the role and the related regulatory mechanisms of vascular endothelial cells in retinal sprouting angiogenesis.
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Aim: The aim of the present investigation was to study the effect of waterlogging on growth and physiological behaviour of sugarcane varieties, and to evaluate these in relation to waterlogging tolerance to identify reliable physiological parameters for screening sugarcane genotypes for waterlogging tolerance.. Methodology: Ten sugarcane varieties including four tolerant and one sensitive were planted under waterlogged and non waterlogged (control) conditions. Waterlogging was imposed for 70 days at the crop age of 120 days, thereafter water was completely drained. Based on relative cane weight (% waterlogged/control), the ranking of varieties was done for waterlogging tolerance. Changes in cane weight, stalk growth rate, internode length, chlorophyll stability index and antioxidant enzyme activity were measured at the end of waterlogging. Leaf samples were analysed for nitrogen, phosphorus and potassium content. Correlation between waterlogging tolerance and different traits was assessed. Results: Based on relative cane weight (% waterlogged/control), CoLk 94184 was found to be the most waterlogging tolerant variety while CoJ 64 the most sensitive. Waterlogging remarkably reduced stalk growth rate and a significant positive correlation was found between waterlogging tolerance and stalk growth rate during waterlogging. The average internode length of sugarcane varieties increased by 11% in waterlogging as compared to control. Tolerant varieties had high chlorophyll stability index than sensitive one showing that tolerant varieties had less chlorosis in waterlogging. Waterlogging caused a significant increase in antioxidant enzyme activity of catalase, peroxidase and superoxide dismutase, however these increase were higher in tolerant varieties. Waterlogging induced severe deficiencies of N, P and K in sugarcane; the leaf N and K concentration were below critical deficiency level. A strong positive correlation was found between leaf K content and waterlogging tolerance. Interpretation: Stalk growth rate, chlorophyll stability index and leaf potassium concentration during waterlogging were identified as efficient physiological traits for screening the sugarcane varieties for waterlogging tolerance.
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Congchi Decoction in Zhouhou Beiji Fang is a prescription commonly used in treating light exterior wind-cold syndrome.Fistular Onion Stalk in the prescription has the effects in inducing sweat and dispelling exogenous evils and accelerating Yang Qi,and has been recorded in many medical books. In addition to be used to treat light exterior wind-cold syndrome,Fistular Onion Stalk is also used extensively and uniquely to treat restlessness after cholera,febrile disease,thoracic obstruction,Yin-Yang toxin syndrome,consumptive disease,bellyache due to spleen Qi deficiency according to Zhouhou Beiji Fang. However,there is still lack of the research on whether Fistular Onion Stalk is derived from shallot or scallion. The authors analyzed the sources of Fistular Onion Stalk in the prescription of Congchi Decoction by consulting ancient books,and studying the plant morphology of shallot,the characteristic and effect of Fistular Onion Stalk and the historical physicians' clinical application of Fistular Onion Stalk,the completion and popularity of Zhouhou Beiji Fang,the ratio of water to medicine of Congchi Decoction and the chemical ingredients of Fistular Onion Stalk. Finally,the authors concluded that Fistular Onion Stalk in the Congchi Decoction refers to Scallion bulbs.
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Humains , Médicaments issus de plantes chinoises , Pharmacologie , Médecine traditionnelle chinoise , Oignons , Chimie , Yin-yangRésumé
OBJECTIVE@#To investigate the mechanism by which doublecortin promotes the recovery of cytoskeleton in arginine vasopressin (AVP) neurons in rats with electrical lesions of the pituitary stalk (PEL).@*METHODS@#Thirty-two SD rats were randomized into PEL group with electrical lesions of the pituitary stalk through the floor of the skull base (=25) and sham operation group (=7), and the daily water consumption (DWC), daily urine volume (DUV) and urine specific gravity (USG) of the rats were recorded. Four rats on day 1 and 7 rats on each of days 3, 7 and 14 after PEL as well as the sham-operated rats were sacrificed for detection of the expressions of β-Tubulin (Tuj1), doublecortin and caspase- 3 in the AVP neurons of the supraoptic nucleus using immunofluorescence assay and Western blotting.@*RESULTS@#After PEL, the rats exhibited a typical triphasic pattern of diabetes insipidus, with the postoperative days 1-2 as the phase one, days 3-5 as the phase two, and days 6-14 as the phase three. Immunofluorescent results indicated the repair of the AVP neurons evidenced by significantly increased doublecortin expressions in the AVP neurons following PEL; similarly, the expression of Tuj1 also increased progressively after PEL, reaching the peak level on day 7 after PEL. The apoptotic rates of the AVP neurons exhibited a reverse pattern of variation, peaking on postoperative day 3 followed by progressive reduction till day 14. Western blotting showed that the expressions of c-Jun and p-c-Jun were up-regulated significantly on day 3 ( < 0.05) and 7 ( < 0.01) after PEL, while an upregulated p-JNK expression was detected only on day 3 ( < 0.05), as was consistent with the time-courses of neuronal recovery and apoptosis after PEL.@*CONCLUSIONS@#JNK/c-Jun pathway is activated after PEL to induce apoptosis of AVP neurons in the acute phase and to promote the repair of neuronal cytoskeleton by up-regulation of doublecortin and Tuj1 expressions.
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Animaux , Rats , Apoptose , Arginine vasopressine , Pharmacologie , Cytosquelette , Métabolisme , Système de signalisation des MAP kinases , Neurones , Biologie cellulaire , Hypophyse , Biologie cellulaire , Plaies et blessures , Protéines proto-oncogènes c-jun , Métabolisme , Répartition aléatoire , Rat Sprague-Dawley , Régénération , Tubuline , MétabolismeRésumé
Pituicytoma is a rare tumor that arises from the glial cells of the neurohypophysis. For a long time, it was believed that pituicytomas only appeared in adults. Currently, at least three cases of this entity occurring in children have been reported in the literature. The aim of the present report is to describe the case of a 5-year-old girl who presented to the emergency department with visual disturbances, and the diagnosis was a recurrent pituicytoma. Therefore, the clinical presentation, the radiological features of the tumor, and the corresponding surgical management are described. Additionally, a brief review of the management of this unusual entity was performed.
O pituicitoma é um tumor raro que surge das células gliais da neurohipófise. Durante muito tempo, acreditou-se que os pituicitomas só aparecessem em adultos. Atualmente, pelo menos três casos desta entidade ocorrendo em crianças foram relatados na literatura. O objetivo do presente artigo é descrever o caso de uma menina de 5 anos que chegou à emergência com distúrbios visuais, e o diagnóstico foi um pituicitoma recorrente. A apresentação clínica, as características radiológicas do tumor, e o correspondente manejo cirúrgico foram, portanto, descritos. Além disso, foi realizada uma breve revisão do tratamento desta entidade incomum.
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Humains , Femelle , Enfant d'âge préscolaire , Pédiatrie , Tumeurs de l'hypophyse , Tumeurs de l'hypophyse/anatomopathologie , Tumeurs de l'hypophyse/chirurgieRésumé
Lactic acid bacteria and cellulose degrading bacteria play an important role in fermentation process of silage, because they can prevent the rancidity and increase the nutritive value of silage. But the propagation of lactic acid bacteria will inhibit the activity of cellulose degrading bacteria in the silage fermentation system. This problem can be solved by releasing lactic acid bacteria and cellulose degrading bacteria in different time. Therefore, we immobilized lactic acid bacteria as a microbial agent for sustained release. Firstly, the optimal balling concentration of the composite immobilized carrier and composite immobilized carrier were obtained by immobilization of blank balls and corncob adsorbed Lactobacillus plantarum S1 respectively. The best immobilization condition of L. plantarum S1 was obtained by comparing the immobilized rate and balling effect of two kinds of balls, which were embedded by sodium alginate (SA), CMC-Na and embedded-crosslinked by SA, CMC-Na, polyvinyl alcohol (PVA). The results showed that the best balling concentration was achieved by using 6% PVA+0.4% SA+0.3% CMC-Na for embedding-crosslinking and 1.2% SA+0.5% CMC-Na for direct embedding respectively. In addition, comparing with the mechanical strength and embedding rate of five kinds of immobilization process, the best immobilized process was obtained by adding of the mixture of immobilized carriers (1.2%SA+ 0.5%CMC-Na) and corncob adsorbed L. plantarum S1 slowly into 4% CaCl₂ for 24 hours. The corncob adsorption and SA embedding methodology can effectively increase the embedding efficiency of Lactobacillus plantarum S1.
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Pituitary stalk interruption syndrome (PSIS) is associated with low viability and growth retardation of children and adolescents.Because of complex and variable clinical features,PSIS is often misdiagnosed.Now,the features of clinical manifestations and delineation of pituitary structure in magnetic resonance imaging are summarized,which can help the doctors to make more refined diagnosis,and to also make suggestions for hormone replacement therapy and focus of follow-up.
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Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk,hypoplasia of the adenohypophysis,and ectopic neurohypophysis.The occurrence of PSIS is associated with perinatal abnormalities and congenital gene mutations.PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset.The phenotype in children and adolescents includes short stature and abnormal sexual development.However,the manifestations of PSIS in neonates and infants are not specific.The phenotype in the neonatal period includes hypoglycemia,hyponatremia,micropenis,cryptorchidism,malformations,jaundice,constipation and poor appetite.Great importance should be attached to the prognostic value of magnetic resonance imaging (MRI) in pituitary region,and the pituitary characteristics indicated by MRI are closely associated with the clinical phenotypes of PSIS.Once PSIS is diagnosed,hormone replacement therapy should be performed in early stage and subsequent long-term follow-up is demanded.
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Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk,hypoplasia of the adenohypophysis,and ectopic neurohypophysis.PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset.To date,the underlying mechanisms involved in PSIS ontogenesis have remained unclear.Perinatal injury and abnormal pituitary development during the embryonic period have more recently been proposed.Thus far,10 genes mutations,chromosome micro deletions and micro duplications are proved to have been associated with PSIS.Now,the research advances of etiology of PSIS ave reviewed.
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BACKGROUND: The biomechanical properties of maize stalks largely determine their lodging resistance, which affects crop yield per unit area. However, the quantitative and qualitative relationship between micro-phenotypes and the biomechanics of maize stalks is still under examined. In particular, the roles of the number, geometry, and distribution of vascular bundles of stalks in maize lodging resistance remain unclear. Research on these biomechanical properties will benefit from high-resolution micro-phenotypic image acquisition capabilities, which have been improved by modern X-ray imaging devices such as micro-CT and the development of micro-phenotyping analysis software. Hence, high-throughput image analysis and accurate quantification of anatomical phenotypes of stalks are necessary. RESULTS: We have updated VesselParser version 1.0 to version 2.0 and have improved its performance, accuracy, and computation strategies. Anatomical characteristics of the second and third stalk internodes of the cultivars 'Jingke968' and 'Jingdan38' were analyzed using VesselParser 2.0. The relationships between lodging resistance and anatomical phenotypes of stalks between the two different maize varieties were investigated. The total area of vascular bundles in the peripheral layer, auxiliary axis diameter, and total area of vascular bundles were revealed to have the highest correlation with mechanical properties, and anatomical phenotypes of maize stalk were better predictors of mechanical properties than macro features observed optically from direct measurement, such as diameter and perimeter. CONCLUSIONS: This study demonstrates the utility of VesselParser 2.0 in assessing stalk mechanical properties. The combination of anatomical phenotypes and mechanical behavior research provides unique insights into the problem of stalk lodging, showing that micro phenotypes of vascular bundles are good predictors of maize stalk mechanical properties that may be important indices for the evaluation and identification of the biomechanical properties to improve lodging resistance of future maize varieties.
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Phénotype , Tiges de plante/anatomie et histologie , Zea mays/anatomie et histologie , Tests de criblage à haut débit/méthodes , Faisceau vasculaire des plantes/anatomie et histologie , Valeurs de référence , Traitement d'image par ordinateur , Reproductibilité des résultats , Tiges de plante/génétique , Zea mays/génétique , Microtomographie aux rayons X/méthodesRésumé
El síndrome de interrupción del tallo pituitario (PSIS) se caracteriza por la demostración neurorradiológica de un tallo pituitario ausente, interrumpido o hipoplásico, adenohipófisis aplásica/hipoplásica o neurohipófisis ectópica. Este síndrome se ha relacionado con formas severas de hipopituitarismo congénito (HPC), asociado a múltiples deficiencias de hormonas pituitarias (MPHD). Evaluamos a pacientes con HPC y PSIS, analizando los signos y los síntomas neonatales al diagnóstico, relacionándolos con las deficiencias hormonales pituitarias y signos neurorradiológicos presentes. Estudiamos retrospectivamente a 80 pacientes asistidos en el Hospital de Niños de Córdoba, con diagnóstico de HPC, de los cuales 42 (52%) presentaron PSIS; 22 mujeres y 20 varones, EC: 5 días-9,5 años. El 62% presentó MPHD y el 38% insuficiencia somatotrófica aislada (IGHD). El análisis de las variables perinatales demostró antecedentes de parto natural en el 52% (11/21) de las MPHD vs. 13% (2/15) de las IGHD. Cuatro pacientes, 2 con MPHD y 2 con IGHD presentaban antecedentes obstétricos consistentes en presentación podálica y transversa respectivamente, todos ellos resueltos mediante operación cesárea. Los signos y los síntomas perinatales fueron hipo- glucemia: 61% en MPHD vs. 19% en IGHD, p: 0,0105; ictericia: 38% en MPHD vs. 25% en IGHD; micropene: 77% en MPHD y colestasis: 19% en MPHD. Convulsiones neonatales se presentaron en el 75% de los niños con MPHD e hipoglucemia. EC media de consulta: 2,1 años en MPHD (30% en el período neonatal, 70% antes de 2 años) y 3,6 años en IGHD (44% en menores de 2 años). Los pacientes con MPHD presentaban: tallo no visible 81% (n: 21/26) vs. tallo hipoplásico: 19% (n: 5/26), p: 0,0001; en IGHD 56% (n: 9/16) vs. 44% (n: 7/16), p: 0,5067, respectivamente. El 100% de los neonatos con HPC tenían tallo pituitario ausente. Concluimos que la demostración de PSIS en niños con HPC proporciona información valiosa como predictor de la severidad fenotípica, la presencia de MPHD y de la respuesta al tratamiento. La baja frecuencia de antecedentes obstétricos posicionales potencialmente distócicos, como parte de los mecanismos fisiopatogénicos responsables de PSIS, indicaría la necesidad de analizar la importancia de posibles factores genéticos y epigenéticos involucrados. El diagnóstico precoz de HPC debe sospecharse en presencia de signos y síntomas clínicos, tales como hipoglucemia, colestasis, micropene y defectos asociados en la línea media facial. La resonancia magnética cerebral debe formar parte de los estudios complementarios en pacientes con esta presunción diagnóstica, especialmente a edades tempranas. El reconocimiento tardío de esta entidad puede aumentar la morbilidad y la mortalidad con efectos potenciales deletéreos y permanentes.
Pituitary stalk interruption syndrome (PSIS) is characterised by the combination of an interrupted or thin pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia. It is manifested as isolated (IGHD) or combined pituitary hormone deficiencies (CPHD) of variable degrees and timing of onset, with a wide spectrum of clinical phenotypes. PSIS may be an isolated morphological abnormality or be part of a syndrome. A retrospective evaluation is presented of clinical signs and symptoms present at early life stages, as well as an analysis of their relationship with hormone laboratory tests and diagnostic imaging in children with congenital hypopituitarism (CHP), and PSIS. This study was performed in a single centre on a sample of 42 children out of a total of 80 CHP patients, with a chronological age range between 5 days and 9.5 years from a database analysed over a period of 26 years. The study included 26/42 (62%) with CPHD and 16/42 (38%) with IGHD. The analysis of perinatal variables showed a natural delivery in 52% (11/21) of CPHD vs 13% (2/15) of IGHD. Four patients, two with CPHD and two IGHD had breech and transverse presentation respectively. All of them were resolved by caesarean section. The perinatal histories showed hypoglycaemia (61% CPHD vs 19% IGHD, P=.0105), jaundice (38% CPHDvs25% IGHD), micropenis (75%CPHD), hypoglycaemic seizures (75% CPHD), and cholestasis (19% CPHD). The mean CA of consulting for CPHD patients was 2.1 years, 30% in neonatal period and 70% before 2 years. The mean chronical age (CA) was 3.6 years in IGHD patients, with 44% of them less than 2 years. MRI showed that 81% of CPHD patients had absence of pituitary stalk vs 19% with thin pituitary stalk (P=.0001); Patients with IGHD presented 56% absence of pituitary stalk vs 44% with thin pituitary stalk (P=.5067). All (100%) of the patients diagnosed in the neonatal stage had absent pituitary stalk. The characterisation of GH deficient patients by presence and type of hypothalamic-pituitary imaging abnormality provides valuable information as a predictor of phenotypic severity, treatment response, and the potential to develop additional hormonal deficiencies. We conclude that demonstrating PSIS in children with HPC provides valuable information as a predictor of phenotypic severity, presence of MPHD, and response to treatment. The low frequency of potentially dysfunctional positional obstetric history, as part of the pathophysiological mechanisms responsible for PSIS, would indicate the need to analyse the importance of possible genetic and epigenetic factors involved. Early diagnosis of HPC should be suspected in the presence of clinical signs and symptoms, such as hypoglycaemia, cholestasis, micropenis, and associated facial midline defects. MRI should be part of complementary studies in patients with this diagnostic suspicion, especially at an early age. Late recognition of this entity may increase morbidity and mortality with potential permanent deleterious effects.
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Humains , Mâle , Femelle , Nouveau-né , Nourrisson , Enfant d'âge préscolaire , Enfant , Hypophyse/malformations , Hypophyse/physiopathologie , Hypopituitarisme/congénital , Hormone de croissance/déficit , Cholestase/étiologie , Hypoglycémie/étiologie , Hypopituitarisme/diagnosticRésumé
Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.
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Adulte , Femelle , Humains , Encéphale , Craniopharyngiome , Diagnostic , Dyslipidémies , Hormone de croissance , Hyperinsulinisme , Hyperprolactinémie , Insuline , Leptine , Obésité , Ostéoporose , Parents , Parturition , Examen physique , Hypophyse , Crises épileptiquesRésumé
Pituitary stalk interruption syndrome (PSIS) is a newly discovered rare endocrinological syndrome characterized by structrual defect of pituitary and multiple deficiencies of a series of hypothalamic hormones, and thus leading to a cluster of clinical symptoms. This review will illustrate the genetic pathogenic factors influence on embryonic development, and briefly introduce the current studies of Whole-Exome Sequencing on PSIS.
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Pituitary stalk interruption syndrome(PSIS), as a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency, its diagnosis is frequently delayed in clinical practice for the signs and symptoms during the neonatal period and infancy are often overlooked. The typical features of PSIS can be detected by magnetic resonance imaging. Several genes in Wnt, Notch, and Shh signaling pathways that related to hypothalamic-pituitary development, have been found to be associated with this rare syndrome. Nevertheless, the etiology in the majority of cases still remains unknown.In this review, we provide an overview of clinical features of PSIS and summarize our current understanding of its etiology. Furthermore, we propose future research directions for it. This manuscript is a Chinese translation version of review article entitled Pituitary stalk interruption syndrome: from clinical findings and pathogenesis in Journal of Neuroendocrinlogy[Journal of Neuroendocrinology,2017,29(1):DOI : 10.1111/jne.12451]. The authors have attained permissions from Journal of Neuroendocrinology and John Wiley and Sons Ltd.
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Pituitary stalk interruption syndrome(PSIS) is a developmental defect,characterized by a thin or absent pituitary stalk. PSIS is a rare disease with combined pituitary hormone deficiencies, the pathogenesis of which is related to genetic mutations and environmental factors. It is also a genetically and clinically heterogeneous disease. Nine genes were found to be related to PSIS,including HESX1,LHX4,OTX2,SOX3,CDON,GPR161, PROKR2,TGIF and Wnt,Notch,SHH signalling pathways. In recent years,the intensive genetic studies show that four novel genes(CDON,GPR161,PROKR2,TGIF)and SHH pathway are related to PSIS,which provides a brand-new etiopathogenesis of PSIS.