Medical History Research Articles

Ambulatory Blood Pressure Phenotypes, Arterial Stiffness And Cardiac Remodelling.

Evidence on the association of arterial stiffness and left ventricular (LV) concentric remodelling/ LVH assessed by echocardiography, with abnormal blood pressure (BP) phenotypes, defined by office and ambulatory BP monitoring (ABPM) in the community is scanty. We investigated this issue in the participants to the Pressioni Monitorate E Loro Associazioni (PAMELA) study. The study included 491 participants who attended the second and third survey of the PAMELA study performed after 10 and 25 years from the initial evaluation. Data collection included medical history, anthropometric parameters, blood examinations, office, ABPM, echocardiographic and Cardio-Ankle Vascular Index (CAVI) measurements. In the whole study sample (age 66+10 years, 50% males), the prevalence rates of sustained normotension (NT), white coat hypertension (WCH), masked hypertension (MH), sustained hypertension (SH) and non-dipping (ND) were 31.2, 10.0, 24.2, 34.6, and 35.8% and respectively. The likelihood of having SH, the BP phenotype carrying the greatest CV risk, was four times higher (OR= 4.31, CI:2.39-7.76, p<0.0001) in participants with increased CAVI and LV remodelling/LVH compared to their counterparts without organ damage. This association showed an incremental value in discriminating SH compared to both isolated markers of organ damage (OR=1.92,p=0.03 for increased CAVI and OR= 2.02, p=0.02 for LV remodelling/LVH). The presence of isolated but also combined organ damage was unrelated to ND. Our study provides new evidence of the incremental value of looking for both vascular and cardiac organ damage to optimize the identification and clinical management of SH in the general population.

Clinical Prevalence of Hepatitis D Virus Among Hepatitis B Patients in Sulaymaniyah Governorate, Northern Iraq.

Hepatitis D virus (HDV), which occurs as a co-infection with the hepatitis B virus (HBV), is a significant public health burden. Currently, there is a scarcity of data regarding this co-infection in the developing countries. This study aims to address the clinical prevalence of HDV among HBV-infected patients in Sulaymaniyah Governorate, Iraq. This prospective cross-sectional study, conducted from May to November 2022, screened HBV DNA-positive patients visiting Sulaimani Teaching Hospital in Sulaymaniyah governorate, Iraq, for anti-HDV antibodies and HDV RNA. The study included 150 confirmed HBV DNA-positive patients. Of these, 54.7% were male. The mean age of the patients was 49.1 ± 10.1 (18-68). Serological assessment found that 23 (15.3%) of the patients had anti-HDV IgG antibodies, suggesting past or chronic HDV infection, while 16 (10.7%) tested positive for anti-HDV IgM, indicating recent/acute infection. Further molecular analysis confirmed HDV RNA in 15 (10%) of HBV patients, indicating real HDV prevalence. The prevalence of anti-HDV and HDV RNA did not significantly differ by age, gender, marital status, residency, medical, family or medical history (p > 0.05). In conclusion, this study demonstrated a relatively high HDV prevalence among HBV patients in Sulaymaniyah Governorate, Iraq, at 10%, which stresses the need for better screening, health strategies and focused research to combat its impact.

Medical comorbidities and lower myelin content are associated with poor cognition in young adults with perinatally acquired HIV.

Approximately 40% of adults living with HIV experience cognitive deficits. Little is known about the risk factors for cognitive impairment and its association with myelin content in young adults living with perinatally acquired HIV (YApHIV), which is assessed in our cross-sectional study. A prospective, observational cohort study. All participants underwent an 11-test cognitive battery and completed medical and social history surveys. Cognitive impairment was defined as Z scores falling at least 1.5 SD below the mean in at least two domains. Twelve participants underwent myelin water imaging. Neuroimaging data were compared to age and sex-matched HIV-uninfected controls. Regression analyses were used to evaluate for risk factors of lower cognitive domain scores and association between myelin content and cognition in YApHIV. We enrolled 21 virally suppressed YApHIV across two sites in the United States. Ten participants (48%) met criteria for cognitive impairment. Participants with any non-HIV related medical comorbidity scored lower across multiple cognitive domains compared to participants without comorbidities. Myelin content did not differ between YApHIV and controls after adjusting for years of education. Lower cognitive scores were associated with lower myelin content in the cingulum and corticospinal tract in YApHIV participants after correcting for multiple comparisons. Poor cognition in YApHIV may be exacerbated by non-HIV related comorbidities as noted in older adults with horizontally acquired HIV. The corticospinal tract and cingulum may be vulnerable to the legacy effect of untreated HIV in infancy. Myelin content may be a marker of cognitive reserve in YApHIV.

Prevalence of Helicobacter pylori infection among patients with esophageal carcinoma

BACKGROUND Helicobacter pylori (H. pylori ) is a widespread microorganism related to gastric adenocarcinoma (AC). In contrast, it has been reported that an inverse association exists between H. pylori infection and esophageal carcinoma. The mechanisms underlying this supposedly protective effect remain controversial. AIM To determine the prevalence of H. pylori infection in esophageal carcinoma patients, we performed a retrospective observational study of esophageal tumors diagnosed in our hospital. METHODS We retrospectively reviewed the prevalence of H. pylori infection in a cohort of patients diagnosed with esophageal carcinoma. Concomitant or previous proton pump inhibitor (PPI) usage was also recorded. RESULTS A total of 89 patients with esophageal carcinoma (69 males, 77.5%), with a mean age of 66 years (range, 26-93 years) were included. AC was the most frequent pathological variant (n = 47, 52.8%), followed by squamous cell carcinoma (n = 37, 41.6%). Fourteen ACs (29.8%) originated in the gastroesophageal junction and 33 (70.2%) in the esophageal body. Overall, 54 patients (60.7%) presented at stages III and IV. Previous H. pylori infection occurred only in 4 patients (4.5%), 3 with AC (6.3% of all ACs) and 1 with squamous cell carcinoma (2.7% of all squamous cell tumors). All patients with previous H. pylori infection had stage III-IV. Only one patient had received prior H. pylori eradication therapy, whereas 86 (96.6%) had received previous or concomitant PPI treatment. CONCLUSION In our cohort of patients, and after histologic evaluation of paraffin-embedded primary tumors, we found a very low prevalence of previous H. pylori infection. We also reviewed the medical history of the patients, concluding that the majority had received or were on PPI treatment. The minimal prevalence of H. pylori infection found in this cohort of patients with esophageal carcinoma suggests a protective role.

Women with Gestational Diabetes Mellitus Have Greater Formula Supplementation in the Hospital and at Home Despite Intention to Exclusively Breastfeed.

Background: Women with gestational diabetes mellitus (GDM) have lower rates of exclusive breastfeeding compared with women without diabetes. Objectives: To assess associations between GDM and breastfeeding intentions and attitudes, formula supplementation, reasons for formula supplementation, and knowledge of type 2 diabetes mellitus (T2DM) risk reduction associated with breastfeeding among U.S. mothers. Design/Methods: Participants completed an online survey assessing infant feeding knowledge, attitudes, and practices; demographics; and pregnancy-related medical history. Multivariable logistic regression was used to estimate adjusted odds ratios for formula supplementation in the hospital and at home. Results: Of 871 respondents, a smaller proportion of women with GDM compared with women without diabetes intended to exclusively breastfeed. There were no differences between groups in attitudes toward public breastfeeding, attitudes toward breastfeeding beyond infancy, or actual duration of any breastfeeding. Approximately one in four participants believed that breastfeeding mothers may be less likely to develop T2DM, regardless of GDM status. Among those who intended to exclusively breastfeed, GDM was associated with higher odds of formula supplementation in the hospital (adjusted odds ratio [OR] 1.75, 95% confidence interval [CI] 0.97-3.18) and at home (adjusted OR 2.02, 95% CI 1.05-3.89). "Medical reasons," which was reported as an important reason for formula supplementation, was reported more frequently by women with GDM. Conclusions: Women with GDM who intended to exclusively breastfeed had higher odds of in-hospital and at-home formula supplementation, cited medical reasons as a main reason for formula supplementation more often, and were largely unaware of T2DM risk reduction associated with breastfeeding.

Urogeriatric thinking using the example of antiandrogen therapy for prostate cancer

The geriatric patient is defined by an age of over 75years and multimorbidity or by an age of over 80years. These patients exhibit aparticular vulnerability, which, in the incidence of side effects or complications, leads to aloss of autonomy. Treatment sequalae, once they have arisen, can no longer be compensated. It is important to recognize and document treatment requirements among geriatric patients with the help of screening instruments such as the Identification of Seniors at Risk (ISAR) and Geriatric8 (G8) scores. If a treatment requirement is identified, oncologic treatment should not be commenced uncritically but rather a focus placed on identification of functional deficits relevant to treatment, ideally using a geriatric assessment but at least based on adetailed medical history. These deficits can then be presented in astructured, examiner-independent, and forensically validated manner using special assessments. A planned treatment requires not only consideration of survival gains, but also knowledge of specific side effects and, in geriatric patients in particular, their impact on everyday life. These considerations should be compared with the patient's individual risk profile in order to prevent side effects from negating the effect of the treatment, for example by worsening the patient's self-help status. With regard to androgen deprivation in prostate cancer-which often is used uncritically-it is important to consider possible side effects such as osteoporosis, sarcopenia, anemia, and cognitive impairment in terms of apossible fall risk; an increase in cardiovascular mortality and the triggering of ametabolic syndrome on the basis of preexisting cardiac diseases or risk constellations; and to carry out acareful risk-benefit analysis.

Preoperative anxiety, postoperative pain tolerance and analgesia consumption: A prospective cohort study.

Anxiety affects the patient's perception of postoperative pain and causes a significant increase in the consumption of analgesia postoperatively. This study assesses the relationship between preoperative anxiety, postoperative pain and postoperative pethidine consumption. A prospective cohort design was used. Data were collected from 100 patients who were undergoing a laparoscopic cholecystectomy at St Joseph Hospital, Jerusalem. Pain-controlled analgesia with pethidine was utilised to manage pain throughout the postoperative period. The visual analogue scale scores and pethidine consumption of all patients were recorded. Participants' mean level of pain was higher in the preoperative period (mean visual analogue scale = 1.3) compared with their mean level of pain in the postoperative period (mean visual analogue scale = 0.5). There is a statistically significant difference between the participants' level of anxiety and postoperative pain level (p < 0.001). Gender, weight, level of education and smoking were predictors of developing preoperative anxiety. Also, gender, smoking and medication were statistically significant predictors of developing postoperative pain. Furthermore, gender, medical history and medication were statistically significant predictors of pethidine consumption postoperatively. The preoperative anxiety reduction intervention should be promoted and implemented as routine care for all surgical patients.

Medication Reconciliation as Part of Admission Management—A Survey to Improve Drug Therapy Safety in a Urology Department

Complete medication reconciliation during hospital admission is the rationale for further treatment decisions. A consecutive, controlled intervention study was conducted to assess discrepancies in medication reconciliation performed by nurses of the Urology Department compared to the Best Possible Medication History (BPMH) established by pharmacists. This study included pre-intervention (control group, CG), nursing training as a pharmaceutical intervention, and post-intervention (intervention group, IG) groups. The discrepancies were classified as “Missing” (not recorded but taken), “Added” (additionally recorded) “Strength” (incorrect documented dosage), “Intake” (incorrect intake time/schedule), “Double” (double prescription), and “Others” (no clear assignment). Additionally, high-risk drug subgroup discrepancies were particularly prevalent and were evaluated. Training success was compared concerning discrepancies in the CG and IG. Generally, the percentage of discrepancies per patient found was lower in the IG than in the CG (78.1% vs. 87.5%, significantly). The category most identified was “Missing” (IG, 33.3% vs. CG, 35.2%). Overall, a discrepancy of 7.4% each (discrepancies: IG, 27 vs. CG, 38) was determined for high-risk drugs while “Missing” occurred (77.8% vs. 52.6%, out of 7.4%). Despite nursing training only partially reducing discrepancies, the implementation of medication reconciliation using BPMH by pharmacists could improve the process, especially for high-risk drugs.

The role of Electroencephalography in children with Acute Altered Mental Status of unknown etiology: a prospective study.

Acute alterated mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cannot always easily be inferred based on the patient's clinical presentation, medical history or early examinations. The aim of this study is to evaluate the role of the electroencephalogram (EEG) as a diagnostic tool in AAMS of unknown etiology in children. We conducted a prospective study involving EEG assessments on children presenting with AAMS between May 2017 and October 2019. Inclusion criteria were age 1 month to 18 years and acute (<1 week) and persistent (>5 minutes) Altered mental status (AMS). Patients with a known etiology of AAMS were excluded. A literature review was also performed. Twenty patients (median age: 7.7 years, range: 0.5-15.4) were enrolled. EEG contributed to the diagnosis in 14/20 cases, and was classified as diagnostic in 9/20 and informative in 5/20. Specifically, EEG was able to identify nonconvulsive status epilepticus (NCSE) in 5 children and psychogenic events in 4. EEG proved to be a poorly informative diagnostic tool at AAMS onset in 6 children, however in 5 of them, it proved useful during follow-up. Limited data exist regarding the role of EEG in children with AAMS of unknown etiology. In our population EEG proved to be valuable tool, and was especially useful in the prompt identification of NCSE and psychogenic events.

Demographic and geographic distribution of diabetes and pre-diabetes risk in rural settings: results from a cross-sectional, countywide rural health survey in Sullivan County, New York

ObjectiveTo perform a detailed characterisation of diabetes burden and pre-diabetes risk in a rural county with previously documented poor health outcomes in order to understand the local within-county distribution of...

Bullous Drug Eruption.

A 63-year-old woman presented at our emergency department with a disseminated dermatosis that developed after undergoing a cardiac catheterization procedure. Her past medical history included an end-stage renal disease undergoing hemodialysis. Clinical examination revealed erosions and hemorrhagic crusts located on her lips and along the arteriovenous fistula. Additionally, we observed five hyperpigmented macules on her left hand's dorsum and palm and multiple hypopigmented macules in the genital area. Upon medical record review, we discovered the occurrence of prior bullous eruptions following contrast administration. A fixed drug eruption (FDE) due to radiocontrast was diagnosed based on clinical history, clinical examination, eruption timeframe, and positive drug provocation test. Intravenous contrast media reactions can be immediate or delayed, with delayed hypersensitivity reactions (DHR) occurring one hour to seven days post-administration. DHRs often present as maculopapular rashes. FDEs are rare. Skin tests are used to identify culprit agents. Ideally, intradermal tests, with delayed readings, and patch tests are combined for optimal sensitivity. Despite lacking standardized protocols, premedication with corticosteroids may mitigate reaction severity.

A case report about anorexia nervosa and ischemic stroke: what can we learn?

IntroductionAnorexia Nervosa (AN) is a complex psychiatric illness, characterized by a high risk of developing cardiovascular complications. Given the high risk of vascular diseases in patients with AN, we can assume that patients with severe AN have a high risk of developing ischemic stroke. However, to the best of our knowledge, no reports of patients with AN presenting with ischemic stroke have been published, other than a report of the development of IS during refeeding therapy in patients with severe AN.Case presentationThe present case report is aimed at describing the characteristics of an ischemic stroke occurring in a 19-year-old university student who had a 6-month history of AN. She was a non-smoker, had no relevant medical history and no family history of stroke. Upon hospital admission due to symptoms of stroke (aphasia and facial droop), she exhibited severe malnutrition with a BMI of 12.8 kg/m2. Computerized tomography imaging revealed occlusion of the left M2 branch and a congruous extensive area of hypoperfusion. Further investigations ruled out all common causes of stroke: she had no vascular stenosis, no heart diseases or arrhythmias, and no shunts, and gave negative results in autoimmune, toxicological and thrombophilia screenings.ConclusionClinicians should suspect development of severe complications, including ischemic stroke, in patients with severe AN. Further extensive group studies or group-based studies are needed to elucidate the etiology of ischemic stroke in patients with severe AN. This will enable us to develop more precise and effective interventions.Graphical

A rare case report: Brucellosis as an extreme cause of shoulder subluxation and rotator cuff tendinopathy

Rationale: Shoulder subluxation and rotator cuff tendinopathy is commonly associated with degeneration or trauma, and brucellosis has been reported to be correlated with shoulder subacromial bursitis, arthritis. However, brucellosis as a cause of shoulder subluxation and rotator cuff tendinopathy has never been reported in the English medical literature. Patient concerns: A 46-year-old man complained of left shoulder weakness and limited movement ongoing for 1 month. He was primarily diagnosed with shoulder subluxation and rotator cuff tear based on magnetic resonance imaging, and was advised to undergo arthroscopic rotator cuff surgical repair. Diagnoses: Although rotator cuff tear was diagnosed in another hospital, some doubts remained. First, a tendon profile with a relative high signal in T2-weighted magnetic resonance images in the supraspinatus tear area still existed. The findings were clearly different from the usual full-thickness rotator cuff tear, and no tendon profile could be found in the tear area. Second, degenerative rotator cuff tear mainly occurs in the aged population and this patient was relatively young, without a history of trauma. His left shoulder was painless but the weakness and the limited movement were extreme and all of these factors did not support the diagnosis of rotator cuff tear. Some infectious disease was suspected to be the cause and relevant laboratory tests were conducted. This patient was eventually diagnosed as having brucellosis-associated shoulder subluxation and rotator cuff tendinopathy based on positive serum standard tube agglutination test and buffer plate agglutination test for brucellosis. Interventions: Oral drug therapy with rifampicin and doxycycline was used for 8 weeks. Outcomes: A complete response with normal shoulder strength and movement was achieved at 8 weeks. At the one-year follow-up no signs of recurrence were detected. Lessons: Brucellosis-associated shoulder subluxation and rotator cuff tendinopathy may be misdiagnosed as a rotator cuff tear in magnetic resonance imaging and be further managed with indeterminate arthroscopic repair. A comprehensive understanding of the patient’s previous medical history, imaging and laboratory data and a careful physical examination are of great clinic value for the accurate diagnosis of the condition and the subsequent prognosis of the patient.

Survival status and predictors of mortality among severely acute malnourished under-5 children admitted to stabilisation centers in selected government hospitals in Addis Ababa, Ethiopia, 2022: a retrospective cohort study

ObjectiveThis study aims to assess the survival status and predictors of mortality among under-5 children with severe acute malnutrition in Addis Ababa, Ethiopia.DesignA retrospective cohort study was employed on randomly...

Generalized Eruptive Keratoacanthoma (GEKA) after Pfizer mRNABNT162b2 (Comirnaty®) COVID-19 Vaccination Successfully Treated with Cemiplimab

In December 2020, a major vaccination program against COVID-19 commenced in Europe with vaccines such as Pfizer’s mRNABNT162b2 (Comirnaty®). Subsequent reports of immediate and delayed skin reactions emerged. This study presents a case of a 64-year-old male who developed multiple keratoacanthomas approximately two weeks after receiving a second booster dose of the Pfizer vaccine. The patient, who had significant medical history of hypertension and diabetes, presented with erythematous, crateriform lesions on his limbs. A physical examination and histopathological analysis confirmed the diagnosis of Generalized Eruptive Keratoacanthoma (GEKA). Treatment involved cemiplimab I.v. 350 mg administered every three weeks. Within two months, the patient showed significant improvement, with the disappearance of all lesions. Dermoscopy and histopathological exams supported the GEKA diagnosis, which is a rare variant of multiple keratoacanthomas. This case suggests a potential immune-mediated mechanism triggered by the COVID-19 vaccine, leading to the rapid development of keratoacanthomas. Treatment with cemiplimab showed promise, highlighting the potential of immune checkpoint inhibitors in managing multiple keratoacanthomas. Further research is needed to explore the efficacy and safety of such treatments.

Syphilis should not be overlooked in any individual, irrespective of their condition

Introduction: Syphilis remains a significant challenge in public health, largely because of its diverse clinical manifestations, often resulting in underdiagnosis especially among patients with neurogenic disability. Case description: We present a case of neurosyphilis in a 63-year-old patient with a spinal cord injury. Despite syphilis being a well-established sexually transmitted infection, the exacerbation of neurological and dermatological symptoms during physical examination prompted an investigation into alternative causes beyond the patient’s pre-existing paraparesis, ultimately resulting in the diagnosis of neurosyphilis. Conclusion: This case highlights the importance of considering syphilis as a potential diagnosis in individuals regardless of their medical history.

Retrospective Analysis of Fibromyalgia: Exploring the Interplay between Various Triggers and Fibromyalgia's Severity.

This study aims to explore the diverse etiological factors associated with fibromyalgia, including trauma, stress, infections, and head injuries, and investigate their potential correlation with fibromyalgia severeness manifestation, aiming to discern fibromyalgia subgroups. The study is a retrospective analysis, conducted with data of 182 fibromyalgia patients. Each patient's medical history was analyzed to identify a primary etiological event preceding fibromyalgia. Following this, correlations were examined between each etiology group and different measurements, such as impact of fibromyalgia on overall function, widespread of pain, depression, anxiety, and cognitive impairments. Cluster analysis was conducted in order to distinguish between groups of symptoms and functioning. Contrary to the initial hypothesis, no direct association between a specific trigger and symptom manifestation was identified. However, cluster analyses revealed two distinct profiles based on symptom severity. Emotional trauma emerged as a potential contributor to heightened symptom severity, impacting overall function and cognitive abilities. Emotional trauma and stress are crucial factors exacerbating fibromyalgia (FM) symptoms, highlighting the importance of managing these elements in FM patients. This study underscores the complexity of FM, necessitating a nuanced understanding of its etiology and symptomatology. We recommend a multidisciplinary treatment approach that includes assessing and addressing chronic stress and trauma and incorporating stress management interventions to improve patient outcomes.

Biological Evaluation of Dinuclear Platinum(II) Complexes with Aromatic N-Heterocycles as Bridging Ligands

The history of effective anti-cancer medications begins with the discovery of cisplatin’s anti-cancer properties. Second-generation analogue, carboplatin, with a similar range of effectiveness, made progress in improving these drugs with fewer side effects and better solubility. Renewed interest in platinum-based drugs has been increasing in the past several years. These developments highlight a revitalized enthusiasm and ongoing exploration in platinum chemotherapy based on the series of dinuclear platinum(II) complexes, [{Pt(L)Cl}2(μ-bridging ligand)]2+, which have been synthesized and evaluated for their biological activities. These complexes are designed to target various cancerous conditions, exhibiting promising antitumor, antiproliferative, and apoptosis-inducing activities. The current work aims to shed light on the potential of these complexes as next-generation platinum-based therapies, highlighting their enhanced efficacy and reduced side effects, which could revolutionize the approach to chemotherapy.

“Something Miraculous about Them”: ‘Indian Doctors’ and quacks in White Australia, 1880-1930

Delving into the historical narrative of medicine in colonial India and Australia, this article sheds light on a neglected aspect: the role of ‘Indian doctors,’ encompassing oculists and hakims, practitioners of indigenous Indian medicine, within the Australian landscape. Often marginalized in discussions of migration patterns and colonial medical history, these ‘Indian doctors’ possess a rich history intricately interwoven with the complex networks of the British Empire. Drawing upon the insights of scholars who have highlighted the mobility of ‘Indian doctors’ in Britain and Australia, this article underscores their significant presence and impact during the period spanning from 1880 to 1930. Through an analysis of contemporary Australian newspaper reports, the article unveils the popular representations of these practitioners and explores their influence across both regional outposts and urban centres within the confines of White Australia. By bringing the stories of these oft-forgotten healers to the forefront, this article aims to enrich our understanding of colonial medical dynamics and transnational networks.

NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report

Summary of Medical History: A male infant, 8 months old, was admitted to hospital with cough and fever. The clinical symptoms were found to be mental retardation, obesity, dystonia, movement limitation, and visual retardation. Early development was normal, but after 6 months, the child developed upright head instability, difficulty grasping, and seizures. Symptoms and Signs: The child presents with mental retardation, obesity, increased muscle tone, motor dysfunction, visual impairment, and seizures. Diagnosis: A whole exon test was performed to detect a neurite extension and migration factor (NEXMIF) gene mutation (NM_001008537.2: c.1042C &gt; T (p. Arg348*)), which is known to be associated with intellectual disability and neurological symptoms. In addition, the test revealed a mutation in the Kinase D interacting substrate of 220 kDa (KIDINS220) gene (NM_020738.2: c.3242_3243insC (p. Leu1082AIafs*5)) with a heterozygous mutation in the father and wild type in the mother. Treatment: The patient was treated with anti-infection, aerosol inhalation, calcium supplement, and anti-epileptic drugs (levetiracetam), and the disease was controlled. Home and hospital rehabilitation is also underway. Clinical Outcome: The condition of the child improved after treatment and no seizures occurred again. The patient needs continuous rehabilitation treatment and follow-up observation. Conclusion: For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.