Volume 104 · Issue 43 · 2024

Spontaneous intracranial hypotension is a disease characterized by orthostatic headache caused by spinal cerebrospinal fluid leakage. Patients have to remain bedridden, which significantly affects their quality of life. In severe cases, complications such as subdural hematomas may occur. Clinical practice reveals a high rate of misdiagnosis and insufficient implementation of diagnostic and treatment measures. To improve clinical physicians′ understanding of spontaneous intracranial hypotension and to standardize the diagnosis and treatment, the Neurologist Branch of the Chinese Medical Doctor Association and the Headache and Sensory Disorders Committee of the Chinese Research Hospital Association organized experts to develop a total of 30 recommendations on the clinical identification, examination processes, diagnostic criteria, treatment, and follow-up of spontaneous intracranial hypotension based on domestic and international clinical practices and recent literature evidence after extensive discussions.

To explore the long-term prognosis and related factors of neonates and infants meningitis caused by Streptococcus agalactiae.

The Clinical data of neonates and small infants with Streptococcus agalactiae meningitis admitted to the Children′s Hospital of Zhengzhou University from January 2015 to May 2022 were retrospectively collected, and long-term follow-up of neurological development was conducted for the patients, with a follow-up period of ≥18 months. According to long-term neurological prognosis indicators, the patients were divided into good prognosis group and poor prognosis group, and the multivariate logistic regression model was used to analyze the factors affecting the long-term prognosis of the patients.

A total of 86 children were included, with 50 males and 36 females, and their age ranged from 3 to 85 (29.7±18.5) days. The follow-up duration was 20 to 78(47.2±17.0) months, and the age at the end of follow-up was 1.8 to 6.6(4.2±1.3) years. Among them, there were 54 cases in good long-term prognosis group and 32 cases in poor prognosis guoup. Infectious shock [56.3%(18/32) vs 13.0%(7/54), P<0.001], hypoproteinemia [46.9%(15/32) vs 22.2%(12/54), P=0.017], surgical intervention for neurological complications [31.0%(13/32) vs 7.4%(4/54), P=0.003], abnormal neurological examination at discharge [37.5%(12/32) vs 7.4%(4/54), P<0.001], and abnormal cranial imaging at discharge [53.1%(13/32) vs 7.4%(4/54), P<0.001] were higher in the poor prognosis group than those in the good prognosis group. The peripheral blood WBC count [M(Q₁, Q₃)] [4.7(3.4, 7.6)]×10⁹/L at the onset of the disease was lower in the poor prognosis group than that in the good prognosis group [10.1(3.8, 14.1)]×10⁹/L, and the cerebrospinal fluid protein concentration [3.0(2.1, 3.8)] g/L was higher in the poor prognosis group than that in the good prognosis group [2.5(1.9, 2.8)] g/L (both P<0.05). The multivariate logistic regression model found that peripheral blood WBC<4.0×10⁹/L (OR=5.501,95%CI:1.430-21.170,P=0.013), infectious shock (OR=4.600,95%CI:1.008-21.004,P=0.047), neurological complications undergoing surgical intervention (OR=8.961,95%CI:1.792-44.812,P=0.008), and abnormal head imaging at discharge (OR=12.636,95%CI:2.502-63.829,P=0.002) were related factors for poor long-term prognosis in neonatal and infants meningitis caused by Streptococcus agalactiae.

Neonates and infants meningitis caused by Streptococcus agalactiae have a high incidence of long-term adverse prognosis. Peripheral blood WBC<4.0×10⁹/L, infectious shock, neurological complications undergoing surgical intervention, and abnormal cranial imaging at discharge are related factors for poor long-term prognosis.

To analyze the value of differential diagnosis of post-reflux swallow-induced peristaltic wave index (PSPWI) between esophageal diseases of gut-brain interaction (E-DGBI) and gastroesophageal reflux disease (GERD).

The patients diagnosed as E-DGBI and GERD in the Department of Gastroenterology, Beijing Tsinghua Changguang Hospital from June 2016 to June 2018 were retrospectively included. The medical records, gastroscopy and 24-hour pH-intraluminal impedance monitoring reports were collected. According to clinical diagnosis, the patients were divided into E-DGBI group and GERD group. PSPWI, acid exposure time (AET), DeMeester score, total reflux times and mean nocturnal baseline impedance (MNBI) were compared between the both group. The receiver operating characteristic curve (ROC) of PSPWI, AET, total reflux times and MNBI was drawn to identify the sensitivity and specificity of E-DGBI and GERD. The cut-off values were calculated with Youden index and the area under the curve (AUC) was compared.

A total of 73 patients were included,including 36 males and 37 females, whose age [M (Q₁, Q₃)] was 54.0 (42.6, 63.0) years. There were 39 cases in E-DGBI group and 34 cases in GERD group. The 24-h AET [0.5 (0.1, 1.6) vs 6.0 (3.6, 11.9)], DeMeester score [2.8 (1.1, 5.7) vs 20.4 (14.7, 47.4) score] and total reflux times [32.0 (19.0, 53.0) vs 66.0 (34.3, 96.0) times] were significantly higher in E-DGBI group than those in GERD group (all P<0.001);MNBI in E-DGBI group was higher than that in GERD group[2 375.0 (1 726.0, 2 978.0)Ω vs 1 361.0 (814.0, 2 273.5)Ω, P<0.001]. The PSPWI in E-DGBI group is higher than that in GERD (0.56±0.19 vs 0.25±0.15, P<0.001). According to ROC, with PSPWI>0.46 as the cut-off value, the AUC was 0.895 (95%CI: 0.827-0.963) in differentiating E-DGBI and GERD. The sensitivity was 94.1% and the specificity was 69.2%. There were no significant differences of AUC between PSPWI and AET or total reflux events (all P>0.05). But the AUC of PSPWI was higher than that of MNBI (AUC=0.749,95%CI:0.632-0.866,P=0.031).

PSPWI can better distinguish E-DGBI from GERD.

To investigating the impact of vitamin D (VitD) deficiency on the jagged 1 protein (Jagged1)/Notch3 signaling pathway in the pulmonary arteries of rats with monocrotaline (MCT)-induced connective tissue disease (CTD)-related pulmonary arterial hypertension (PAH) and to explore the pathological and molecular mechanisms of VitD involvement in the development of CTD-PAH.

Twenty-four 7-week-old male Wistar rats were divided into a normal diet group and a VitD-free diet group using random number table, with 12 rats in each group. After 5 weeks of feeding, the rats were further randomly divided into saline and MCT groups, forming group A (normal diet+saline), group B (normal diet+MCT), group C (VitD-free+saline), and group D (VitD-free+MCT), with 6 rats in each group, and the rats were continued to be fed for another 4 weeks. The MCT group was injected with MCT solution subcutaneously on the back of the neck to construct the CTD-PAH model, and the saline group was injected with an equal amount of saline as a control. At the end of the experiment, blood samples were collected from all rats, and the serum 1, 25-dihydroxy vitamin D levels were determined by enzyme-linked immunosorbent assay. Hemodynamic measurements were performed on all rats, recording and calculating the mean values of right ventricular pressure and pulmonary artery pressure. Lung tissues and pulmonary arteries of all rats were stained with hematoxylin-eosin staining, the inner and outer diameters of pulmonary vessels were measured, and the percentage of pulmonary artery medial layer thickness was calculated. The right ventricular hypertrophy index was determined by weighing the parts of the heart and calculating the ratio. The apoptosis of pulmonary artery smooth muscle cells was assessed by terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labeling. The expression levels of Jagged1, Notch3, and hairy and enhancer of split-1 (Hes1) mRNA and protein in the pulmonary arteries were analyzed by reverse transcription quantitative polymerase chain reaction and Western blotting.

The serum 1, 25-dihydroxy vitamin D levels in group D were significantly lower than those in groups A, B, and C [(51.01±0.96) μg/L, (65.15±1.83), (57.49±0.28), (54.52±2.87) μg/L, respectively, all P<0.05]. The right ventricular pressure, pulmonary artery systolic pressure, pulmonary artery diastolic pressure, and mean pulmonary artery pressure in Group D rats were significantly higher than those in groups A, B and C (all P<0.05). The percentage of pulmonary artery medial layer thickness in group D (56.28%±9.51%) was significantly higher than that in Groups A (21.28%±1.89%), B [22.72% (22.16%, 30.10%)], and C (38.73%±7.34%) (all P<0.05); the right ventricular hypertrophy index in group D (45.74%±12.68%) was significantly higher than that in groups A (21.78%±2.80%), B (40.93%±9.10%), and C (23.71%±1.22%) (all P<0.05). The apoptosis of pulmonary artery smooth muscle cells in group D (0.07±0.01) was significantly lower than that in groups A (1.00±0.08), B (0.17±0.02), and C (0.49±0.07) (all P<0.05). The levels of Jagged1, Notch3, and Hes1 mRNA and protein in Group D were all significantly higher than those in Groups A, B, and C (all P<0.05).

VitD deficiency is involved in the pathophysiological mechanisms of CTD-PAH development. This occurs by upregulating the expression of the Jagged1/Notch3/Hes1 pathway in the pulmonary arteries of rats with MCT-induced PAH. The consequences include pulmonary artery thickening, increased pulmonary artery pressure, increased right ventricular pressure, right ventricular hypertrophy, and decreased apoptosis of pulmonary artery cells.

The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children′s Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q₁, Q₃)] of 22 (10, 32) months. All the patients presented with typical facial and overall developmental delay (developmental, motor and language delay). The 4 patients were found to harbor de novo heterozygous variants of the TCF4 gene, including the c.990G>A(p.S330S), c.1417_1418delinsT (p.Pro473ArgfsTer15), c.1028C>G (p.S343*) and c.500-2delinsTC. After 15 months of follow-up, all 4 patients received early rehabilitation treatment, and their gross motor function improved to varying degrees, while 3 patients had no improvement in language function. TCF4 gene variation in 4 children had phenotypic heterogeneity, and the main clinical manifestations were developmental delay, language development disorder and special facial features. Among the gene variation types, there was 1 case each of synonym variation, frameshift variation, nonsense variation and splicing variation.

This article reports a patient presenting with"extremely low uric acid levels in blood and urine"clinically along with reviewing relevant literature to consider a diagnosis of xanthinuria. Peripheral blood samples of the patient and her family were further collected for xanthine dehydrogenase(XDH) gene sequencing, showing that the patient had compound heterozygous mutations in exon 19:c.1995_2006del12(p.His666_Gly669del) and exon 10:c.871G>T(p.Glu291*), however no mutations were found in the gene encoding MOCOS on chromosome 18, confirming the diagnosis of hereditary xanthinuria type Ⅰ.The patient′s father, son and daughter carried heterozygous mutations in exon 19:c.1995_2006del12(p.His666_Gly669del), and the mother carried heterozygous mutations in exon 10:c.871G>T(p.Glu291*).Mutations in the XDH gene cause a lack of xanthine oxidoreductase function, which hinders the production of uric acid, leading to very low or undetectable levels in blood and urine. Patients present clinically with hematuria, renal colic, urolithiasis, and even acute renal failure. Through the diagnosis and treatment of this patient and literature review, the article aims to deepen the understanding of purine metabolism and uric acid production process, and improve the clinicians′ diagnosis and treatment ability of hypouricemia.

This article reports a case of a 32-year-old female patient who was seen in the Department of Gastroenterology of Peking Union Medical College Hospital on November 22, 2022 due to "changes in personality and eating habits, weight loss for 7 months, abdominal distension and vomiting for 5 months". The patient had gastrointestinal dysfunction such as abdominal distension, vomiting and weight loss as the first manifestation, with repeated symptoms and poor treatment effect. Combined with abnormal liver function [alanine aminotransferase (ALT) 124 U/L, aspartate aminotransferase (AST) 93 U/L, glutamyltransferase (GGT) 83 U/L], abnormal white matter signals revealed by cranial MRI and heterozygous mutation of exon 15 of POLG gene (c.925C>T), after multidisciplinary consultation, the patient was finally diagnosed as mitochondrial DNA depletion syndrome (MDDS) liver-brain type. After liver protection, dietary adjustment, gastrointestinal motility promotion, intestinal flora regulation and psychotherapy, the patient's liver function improved in a short period of time, gastrointestinal symptoms were alleviated, and weight gained, and he was discharged from hospital on December 7, 2022. After 3 weeks of discharge, the patient died due to acute liver failure and hypoglycemia.

A male, 2 years old and 11 months old, went to Fujian Children's Hospital for "diagnosis of 21-hydroxylase deficiency after birth and joint relaxation for 2 years". Physical examination revealed systemic joint hypermobility and skin hyperelasticity. Third generation sequencing detected TNXA/TNXB CH-2 heterozygous chimeric gene and TNXA/TNXB CH-1 heterozygous chimeric gene in trans configuration, and was diagnosed as biallelic CAH-X syndrome. Hydrocortisone was administered orally at 15 mg/m daily²Fluhydrocortisone 0.1 mg daily for regular replacement therapy, and the electrolyte monitoring was normal.

This article reports a case of a 50-year-old male patient who was successfully rescued from cardiac arrest caused by traumatic rupture of internal and external carotid arteries. The patient was in good health in the past. On January 23, 2024, he was hit by a large bolt ejected at high speed while engaged in installation work. Preliminary diagnosis: traumatic cardiac arrest (TCA), carotid artery injury (right side), hemorrhagic shock, skull base fracture, traumatic subarachnoid hemorrhage, pneumocranial cavity, open maxillary fracture, open mandibular fracture, traumatic coagulopathy. Under the efficient pre-hospital and in-hospital connection, the spontaneous heart rhythm was restored through the treatment of a multidisciplinary trauma team, and injury control surgery was performed, supplemented by anti-infection, stable internal environment, epidural hematoma removal, mechanical ventilation, cerebral resuscitation and other treatments, and finally recovered and discharged.

Type 2 diabetes mellitus (T2DM) is an endocrine and metabolic disease caused by many factors, which seriously affects the health and quality of life of patients. As an important part of the digestive system, the intestinal tract is a complex tissue with multiple functions. It not only controls nutrient absorption and mediates glucose and lipid metabolism, but also regulates the functions of various target organs by releasing intestinal hormones, and resides in a large number of intestinal microorganisms to maintain the homeostasis of the body. A large number of clinical studies have confirmed that specific intervention of duodenal mucosa can effectively reduce blood glucose and improve metabolism, which is a promising treatment strategy for T2DM. This article reviews the current research progress of duodenal mucosal remodeling (DMR), focusing on its clinical therapeutic efficacy and safety, and explores the potential mechanism and advantages of this procedure in mediating blood glucose normalization. Studies have shown that DMR therapy is feasible and effective in mediating fasting blood glucose normalization in patients with T2DM, and it can also reduce the dose of insulin injection and even stop oral hypoglycemic drugs. This discovery provides important clinical guidance for the future treatment of T2DM, and provides new ideas for the comprehensive management of T2DM. Future research should focus on the exploration of the long-term safety and efficacy of this treatment plan, and explore its exact hypoglycemic mechanism.

The burden of osteoarthritis (OA) disease is heavy, and therapeutic drugs that can play medium and long-term effects and delay the structural changes of joints are still needed clinically. In recent years, glucosamine began to become one of the important methods for the treatment of OA; Such drugs play the role of cartilage protection and analgesia by inhibiting the degradation of cartilage components and promoting the synthesis of cartilage components. Glucosamine sulfate (GS) and glucosamine hydrochloride (GH) are the two most commonly used glucosamine preparations at present. Their efficacy and safety have been confirmed in clinical studies, but there are still some controversies in clinical application. How to reasonably choose the treatment plan of such drugs is very important, but in clinical practice, doctors' understanding of such drugs is not sufficient. Based on the structure, characteristics and pharmacological effects of glucosamine, the clinical research evidence of glucosamine in the treatment of OA was reviewed in order to provide reference for the clinical application of this kind of drugs.

Constipation is a common disease in children, mostly functional. The vast majority of constipation can be improved by conventional treatment, but there are still some patients with poor effect of conventional treatment, and there are refractory constipation and fecal incontinence. Currently, neuromodulation is a treatment for refractory constipation and fecal incontinence, and neuromodulation is divided into invasive (implantable) and non-invasive. According to the different ways of current stimulation, non-invasive neuromodulation is divided into interference current, pulse current and magnetic stimulation, in order to review the research progress of non-invasive neuromodulation in the treatment of refractory constipation and fecal incontinence in children, in order to provide a basis for the treatment of this disease.

A 43-year-old female was admitted with "left calf pain for 1 year". The patient reported that he had left calf pain without obvious trigger 1 year ago, and had no numbness and discomfort in his limbs. He has not been diagnosed and treated, and now he feels that the pain symptoms have aggravated. Past physical health, no history of other trauma or disease. On physical examination, there was no obvious skin damage to the left calf, local skin and soft tissue swelling and tenderness, no abnormal movement of the joints of the left lower limb, and no abnormal blood supply to the skin at the extremities of the extremities. X-ray examination showed ground glass changes and cystic lesions in the middle of the left tibia, thinning of the cortex, no periosteal reaction, and osteosclerosis at the edges (Figures 1 and 2). According to the medical history, physical examination and imaging examination, the patient was initially diagnosed as benign space-occupying lesion of the left tibia, considering the possibility of bone fibrous dysplasia. Puncture pathological biopsy showed abnormal hyperplasia of bone fibrous tissue, which was consistent with the diagnosis of bone fibrous dysplasia. The domestic incidence rate of bone fibrous dysplasia is 10~30/1 million, accounting for the first of bone tumor-like lesions, and the single bone type is the most common, more common in femur and tibia, accounting for about 75% ~80% of bone fibrous dysplasia. The onset of the disease is more common in children and adolescents, and it is usually not easy to become malignant. The patient was treated by surgery. The surgical plan included curettage of the lesion, autologous iliac bone combined with allogeneic bone compression and bone grafting, and plate and screw internal fixation. On the second day after surgery, the joint flexion and extension exercise of the affected limb began without weight bearing, the partial weight bearing exercise with crutches began one month after surgery, and the full weight bearing exercise began three months after surgery, and the pain symptoms were significantly alleviated. At 1 year follow-up, the patient had no obvious pain symptoms and limited lower limb function, and the treatment results were satisfactory.