Beyond the ‘tic’ king clock: a case report on adult onset tic disorder

Tic is rapid recurrent non-rhythmic motor movement or vocalization; movement of limbs or other body parts is known as motor tic and involuntary repetitive sound like grunting sniffing throat clearing is known as a vocal tic. Tic is a neurodevelopmental disorder and has its onset in the developmental period. According to diagnostic and statistical manual of mental illnesses (DSM) 5, tic should have its onset before 18 years of age and can resolve with proper treatment. In this case, a 23-year-old female presented with recurrent abnormal throat clearing and excessive loud sounds which started for the last 1 year. Initially, she was diagnosed with psychogenic hiccup in another department and was treated with Baclofen 30 mg for 1 month but as no improvement was observed later she was referred to psychiatry outpatient department (OPD) for further treatment where she was diagnosed with adult onset vocal tic with a premonitory urge for tics scale (PUTS) score of 27 on admission and she was treated with tablet Risperidone 2 mg and after 4 weeks of treatment all symptoms subside and PUTS score came to be 6 at the time of discharge.

Fiebre de origen desconocido como forma de presentación de la enfermedad de Still del adulto / Fever of unknown origin as a form of presentation of an adult-onset Still's disease

Introducción: La enfermedad de Still del adulto es una enfermedad reumática, inflamatoria, sistémica y crónica cuya prevalencia en la población caucásica se estima en 1 caso por cada 100 000 adultos Objetivo: Presentar un paciente adulto joven, con una fiebre de origen desconocido como forma de presentación de la enfermedad de Still del adulto. Caso clínico: Paciente de 29 años de edad con antecedente de fiebre reumática, con un ingreso hospitalario anterior; que presentó un cuadro febril no infeccioso, de 50 días de duración, al cual no se le determinó la causa. Un año después reapareció la fiebre, de similares características, asociada a poliartralgia, hepatoesplenomegalia, anemia, hiperferritinemia, neutrofilia, factor reumatoideo negativo y se constató un cuadro de pericarditis durante el ingreso. Se realizó el diagnóstico de enfermedad de Still del adulto, por exclusión. Se inició tratamiento con esteroides, desapareció la fiebre en las primeras 24 horas y el paciente tuvo una evolución favorable. Conclusiones: La enfermedad de Still del adulto puede presentarse como una fiebre de origen desconocido y se diagnostica por exclusión, ya que no existen manifestaciones clínicas ni pruebas de laboratorio, patognomónicas. La hiperferritinemia es útil para la sospecha diagnóstica(AU)

Introduction: Adult Still's disease is a rheumatic, inflammatory, systemic and chronic disease whose prevalence in the Caucasian population is estimated at 1 case per 100,000 adults. Objective: To present a young adult patient with a fever of unknown origin as the presentation of adult Still's disease. Clinical case: 29-year-old patient with a history of rheumatic fever, with a previous hospital admission; who presented a non-infectious febrile illness lasting 50 days, for which the cause was not determined. A year later, the fever reappeared, with similar characteristics, associated with polyarthralgia, hepatosplenomegaly, anemia, hyperferritinemia, neutrophilia, negative rheumatoid factor, and pericarditis was noted during admission. The diagnosis of adult Still's disease was made by exclusion. Treatment with steroids was started, the fever disappeared in the first 24 hours and the patient had a favorable evolution. Conclusions: Adult Still's disease can present as a fever of unknown origin and is diagnosed by exclusion, since there are no pathognomonic clinical manifestations or laboratory tests. Hyperferritinemia is useful for diagnostic suspicion(AU)

Differential diagnosis of adult-onset Still's disease with other fever of unknown origin causes / 解放军医学杂志

Objective To explore the differential diagnostic indicators of adult-onset Still's disease(AOSD)from other fever of unknown origin(FUO).Methods The clinical data and laboratory indicators of 177 AOSD patients and 163 FUO patients who were hospitalized in the First Affiliated Hospital of Army Medical University from January 2010 to May 2021 were collected,and the patients were randomly divided into training group and verification group.Statistically significant variables were extracted from univariate analysis for receiver operating characteristic(ROC)curve analysis and the best cut-off value of the variables was obtained.The differential diagnostic indicators were extracted by multivariate logistic regression analysis and nomogram model was constructed.ROC curve,calibration curve,and decision curve analysis were used to evaluate the accuracy and stability of nomogram.Results Univariate analysis revealed that there were significant differences in 4 clinical features(arthralgia,rash,pharyngeal pain,myalgia)and 14 laboratory parameters[white blood cell count(WBC),monocyte percentage,neutrophil percentage,lymphocyte percentage,platelet count,C-reactive protein,interleukin-6(IL-6),ferritin,globulin,immunoglobulin A,and immunoglobulin G(IgG),creatine kinase,creatinine and complement C3].Multivariate analysis suggested that arthralgia,WBC≥9.995×109/L,IL-6≥98.13 ng/L,ferritin≥507.37 ng/ml,globulin≤36.58g/L,IgG≤13.59g/L,complement C3≥1.27 g/L were related with AOSD.The area under curve(AUC)values of training group and verification group were 0.917(95%CI 0.883-0.951)and 0.869(95%CI 0.802-0.936),respectively.The calibration curves showed good consistency.The decision curve analysis showed that training group and verification group had a large positive rate of return in the wide risk range of 5%-85%and 10%-85%,respectively.Conclusions This study has established a relatively accurate AOSD differential diagnosis model.The combination of arthralgia,WBC,IL-6,ferritin,globulin,IgG and complement C3 may help to distinguish AOSD from other causes of FUO.

Adult-onset idiopathic hypogonadotropic hypogonadism: An evaluation of the diagnosis and treatment for three cases / 中华内分泌代谢杂志

Objective:To investigate the clinical characteristics and offer diagnostic and therapeutic approaches for adult-onset idiopathic hypogonadotropic hypogonadism(AIHH).Methods:Clinical, laboratory, and imaging data, as well as follow-up information, of three male patients diagnosed with AIHH at the Department of Endocrinology and Metabolism of Nanfang Hospital, Southern Medical University, were systematically reviewed and analyzed.Results:All three patients were male, with a median age of 39 years(range, 22 to 40). Two patients reported symptoms of enlarged breasts and reduced sexual function, while one case solely reported a decline in sexual function. Physical examination showed that the median length of the penis was 6 cm(range, 5 to 6 cm), and the bilateral testicular volume was 7.96 mL(4.70-8.82 mL). Basal hormone levels at the time of initial visit to our hospital as follows: the median testosterone level was 0.32 ng/mL(0.24-2.96 ng/mL), median follicle stimulating hormone(FSH) level was 0.56 mIU/mL(0.1-0.75 mIU/mL), and the median luteinizing hormone(LH) level was 0.69 mIU/mL(0.1-1.03 mIU/mL). The levels of other hormones secreted by the anterior pituitary gland were normal. Hypothalamic-pituitary magnetic resonance imaging(MRI) showed that 1 patient had a pituitary microadenoma. Three patients were treated with pulsatile GnRH or gonadotropins, one of which had hypothalamic-pituitary-gonadal(HPG) axis function reversal after GnRH pulse pump therapy and lasted for 1 year, but then still had irreversible reduction.Conclusion:AIHH is marked by adult-onset disease and idiopathic hypogonadism. Enhancing fertility remains a critical requirement for these patients. Pulsatile GnRH treatment or gonadotropin therapy, as viable treatments, exhibit therapeutic effects, albeit with occasional fluctuations. Therefore, the emphasis lies in the timely consideration of fertility preservation.

Miopericarditis, una manifestación inicial poco común de la enfermedad de Still del adulto. Reporte de caso / Myopericarditis, a rare initial manifestation of adult Still's disease. Case report

RESUMEN La enfermedad de Still es un desorden inflamatorio infrecuente, con múltiples formas de presentación; sin embargo, el debut con miocarditis o pericarditis es aún menos común (prevalencia del 7%). Se presenta el caso de un hombre de 30 años, previamente sano, que consultó por dolor torácico. Durante su evolución clínica fue diagnosticado con miopericarditis, se indagaron diversas etiologías, pero luego de múltiples estudios se diagnosticó enfermedad de Still del adulto. Se instauró tratamiento con corticoesteroides, el cual tuvo una adecuada respuesta.

A B S T R A C T Adult-onset Still's disease is a rare inflammatory disorder with multiple forms of manifestation; however, the onset with myocarditis or pericarditis is even less common (7% prevalence). Herein, we present a case of a previously healthy 30-year-old man, who consulted for chest pain. During his clinical evolution, he was diagnosed with myopericarditis. Various aetiologies were evaluated and after multiple studies adult-onset Still's disease was diagnosed. Treatment with corticosteroids was established evidencing an adequate response.

Hiperferritinemia: Experiencia de un Centro Universitario en Chile / Hyperferritinemia in a Chilean Academic Healthcare Network: A Retrospective Study

INTRODUCTION: The distribution of causes of hyperferritinemia in international series is heterogeneous. Also, the association between ferritin and prognosis is controversial. This study aims to describe the diagnosis associated with hyperferritinemia in a retrospective cohort at an academic healthcare network in Chile. METHODS: A retrospective review of adult patients admitted to our academic medical center from June 2014 to February 2017 with ferritin ≥3,000 ng/mL. All patients were classified into nine diagnostic categories. Then, the association between ferritin level and disease category, as well as mortality, was evaluated. RESULTS: Ninety-nine patients were identified. The mean age was 50.8 ± 19.9 years, 54.5% were men. The most frequent categories were "inflammatory and autoimmune diseases" (21.2%) and "hematological malignancies" (19.2%). The average ferritin was 10,539 ± 13,016.9 ng/mL, while the higher mean was 16,707 ng/mL in the "inflammatory and autoimmune diseases" category. There was a statistically significant association between the ferritin value and age but not between ferritin and diagnostic categories. In the group over 50, hematologic neoplasms (19%) and infections (19%) were more frequent. In those under 50, inflammatory and autoimmune diseases were more frequent (26.8%). There was no association between the ferritin level and mortality at 1, 3, and 12 months. CONCLUSIONS: The most frequent categories were "inflammatory and autoimmune diseases" and "hematological malignancies", but ferritin level was similar in both. Further research could validate a prognostic role.

Clinical characteristics and diagnostic indicators of macrophage activation syndrome in patients with systemic lupus erythematosus and adult-onset Still's disease / 北京大学学报(医学版)

OBJECTIVE@#To analyze and compare the clinical and laboratory characteristics of macrophage activation syndrome (MAS) in patients with systemic lupus erythematosus (SLE) and adult-onset Still's disease (AOSD), and to evaluate the applicability of the 2016 European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organization classification criteria for MAS complicating systemic juvenile idiopathic arthritis (sJIA) in different auto-immune diseases contexts and to propose new diagnostic predictive indicators.@*METHODS@#A retrospective analysis was conducted on the clinical and laboratory data of 24 SLE patients with MAS (SLE-MAS) and 24 AOSD patients with MAS (AOSD-MAS) who were hospitalized at Peking University People's Hospital between 2000 and 2018. Age- and sex-matched SLE (50 patients) and AOSD (50 patients) diagnosed in the same period without MAS episodes were selected as controls. The cutoff values for laboratory indicators predicting SLE-MAS and AOSD-MAS were determined using receiver operating characteristic (ROC) curves. Furthermore, the laboratory diagnostic predictive values for AOSD-MAS were used to improve the classification criteria for systemic juvenile idiopathic arthritis-associated MAS (sJIA-MAS), and the applicability of the revised criteria for AOSD-MAS was explored.@*RESULTS@#Approximately 60% of SLE-MAS and 40% of AOSD-MAS occurred within three months after the diagnosis of the underlying diseases. The most frequent clinical feature was fever. In addition to the indicators mentioned in the diagnosis criteria for hemophagocytic syndrome revised by the International Society for Stem Cell Research, the MAS patients also exhibited significantly elevated levels of aspartate aminotransferase and lactate dehydrogenase, along with a significant decrease in albumin. Hemophagocytosis was observed in only about half of the MAS patients. ROC curve analysis demonstrated that the optimal discriminative values for diagnosing MAS was achieved when SLE patients had ferritin level≥1 010 μg/L and lactate dehydroge-nase levels≥359 U/L, while AOSD patients had fibrinogen levels≤225.5 mg/dL and triglyceride levels≥2.0 mmol/L. Applying the 2016 sJIA-MAS classification criteria to AOSD-MAS yielded a diagnostic sensitivity of 100% and specificity of 62%. By replacing the less specific markers ferritin and fibrinogen in the 2016 sJIA-MAS classification criteria with new cutoff values, the revised criteria for classifying AOSD-MAS had a notable increased specificity of 86%.@*CONCLUSION@#Secondary MAS commonly occurs in the early stages following the diagnosis of SLE and AOSD. There are notable variations in laboratory indicators among different underlying diseases, which may lead to misdiagnosis or missed diagnosis when using uniform classification criteria for MAS. The 2016 sJIA-MAS classification criteria exhibit high sensitivity but low specificity in diagnosing AOSD-MAS. Modification of the criteria can enhance its specificity.

Clinical value of split domino donor auxiliary liver transplantation / 中华消化外科杂志

Objective:To investigate the clinical value of split domino donor auxiliary liver transplantation.Methods:The retrospective and descriptive study was conducted. The clinco-pathological data of 3 liver transplantation recipients who were admitted to Nanjing Drum Tower Hospital affiliated to Nanjing University Medical School and 1 liver transplantation recipient who was admitted to external hospital in September 2018 were collected. The first case was male, aged 22 years, who was diagnosed as type II citrullinemia (CTLN2). The second case undergoing liver transplantation in external hospital was male, aged 59 years, who was diagnosed as decompensated alcoholic cirrhosis. The third case was female, aged 52 years, who was diagnosed as hepatocellular carcinoma of right lobe of liver. The fourth case was female, aged 51 years, who was diagnosed as hepatocellular carcinoma of right lobe of liver. The donor liver from a brain and cardiac death donor was split in vitro into the left liver and the right liver, in which the right liver without middle hepatic vein, and the modified piggyback liver transplantation using the left liver and the classical orthotropic liver transplantation using the right liver was conducted on the first and the second case, respectively. The original liver of the first case was split in vivo into the left liver and the right liver, and the piggyback auxiliary liver transplantation using the left liver and the piggyback auxiliary liver transplantation using the right liver was conducted on the third and the fourth case who underwent extended right hemihepatectomy, respectively. Observation indicators: (1) intraoperative situations; (2) follow-up. Follow-up was conducted using outpatient examination and telephone interview to detect liver function, liver imaging, complication and survival of recipients up to October 2021.Results:(1) Intraoperative situations. Liver transplantation was conducted successfully on the first, third and fourth case, with the operation time, the volume of intraoperative blood loss, the donor liver cold ischemia time, the graft-to-recipient weight ratio were 400 minutes, 370 minutes, 390 minutes, 600 mL, 1 300 mL, 1 600 mL, 230 minutes, 152 minutes, 135 minutes, 1.2%, 0.8%, 1.1%. (2) Follow-up. B-ultrasound examination of the first, third and fourth case after liver transplantation showed that the blood flow was normal, and all the 3 cases discharged and were followed up at postoperative 1, 6 and 12 month. The liver function, the level of blood ammonia and citrulline were normal of the first, third and fourth case at postoperative 1 week. Imaging examina-tion showed normal liver morphology of the first and third case, and a transplanted liver atrophy caused by portal vein steal of the fourth case. ① The level of alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TBil), direct bilirubin (DBil) of the first case before liver transplantation, at postoperative 1 day, 2 day, 3 day, 7 day, 10 day, 6 month and 1 year were 22.8 U/L, 404.1 U/L, 355.5 U/L, 289.6 U/L, 31.0 U/L, 23.1 U/L, 42.1 U/L and 25.8 U/L, 31.5 U/L, 517.7 U/L, 327.6 U/L, 172.9 U/L, 15.9 U/L, 21.4 U/L, 47.5 U/L and 29.7 U/L, 3.8 μmol/L, 92.1 μmol/L, 87.4 μmol/L, 79.7 μmol/L, 90.1 μmol/L, 130.6 μmol/L, 33.8 μmol/L and 25.4 μmol/L, 2.3 μmol/L, 47.0 μmol/L, 44.1 μmol/L, 47.1 μmol/L, 57.4 μmol/L, 70.9 μmol/L, 24.7 μmol/L and 9.7 μmol/L, respectively. The level of citrulline and blood ammonia of the first case before and after liver transplantation were 999.0 μmol/L, 196.0 μmol/L and 14.6 μmol/L, 9.0 μmol/L, respectively. The first case was followed up for 3 years and survived without any liver transplantation related complication. ② The level of ALT, AST, TBil, DBil of the third case before liver transplantation, at postoperative 1 day, 2 day, 3 day, 7 day, 10 day, 6 month and 1 year were 21.3 U/L, 143.9 U/L, 182.0 U/L, 132.0 U/L, 17.2 U/L, 10.1 U/L, 17.6 U/L and 16.8 U/L,20.0 U/L, 291.0 U/L, 227.5 U/L, 106.4 U/L, 15.8 U/L, 10.8 U/L, 17.1 U/L and 19.4 U/L, 6.8 μmol/L, 50.9 μmol/L, 45.0 μmol/L, 34.0 μmol/L, 32.4 μmol/L, 22.3 μmol/L, 12.8 μmol/L and 14.9 μmol/L, 2.5 μmol/L, 18.4 μmol/L, 17.2 μmol/L, 14.9 μmol/L, 14.8 μmol/L, 12.1 μmol/L, 3.6 μmol/L and 4.4 μmol/L. The level of citrulline and blood ammonia of the third case after liver transplantation were 24.9 μmol/L and 16.0 μmol/L. The third case was followed up for 3 years and survived without any liver transplantation related complication. ③ The level of ALT, AST, TBil, DBil of the fourth case before liver transplantation, at postoperative 1 day, 2 day, 3 day, 7 day, 10 day, 6 month and 1 year were 35.0 U/L, 268.7 U/L, 682.0 U/L, 425.8 U/L, 57.5 U/L, 34.0 U/L, 29.4 U/L and 18.1 U/L, 37.0 U/L, 419.1 U/L, 436.2 U/L, 139.5 U/L, 35.2 U/L, 32.4 U/L, 54.7 U/L and 32.8 U/L, 7.1 μmol/L, 64.2 μmol/L, 41.4 μmol/L, 17.6 μmol/L, 34.2 μmol/L, 48.7 μmol/L, 14.1 μmol/L and 21.8 μmol/L, 2.8 μmol/L, 18.9 μmol/L, 16.1 μmol/L, 6.0 μmol/L, 14.6 μmol/L, 26.7 μmol/L, 3.9 μmol/L, 11.8 μmol/L. The level of citrulline and blood ammonia of the fourth case after liver transplantation were 8.4 μmol/L and 47.0 μmol/L. One week after surgery, the transplanted right liver of the fourth case occurred atrophy due to blood stealing from the right branch of the portal vein. B-ultrasound examination showed that the reflux of the hepatic artery and hepatic vein was unobstructed. Immunosuppressants were discontinued 3 months after operation on the fourth case and there was no complication such as rejection, bile leakage, biliary stricture, thrombosis and vascular stricture during follow-up. The fourth case died of lung metastasis 19 months after operation.Conclusion:Split domino donor auxiliary liver transplantation can be used for the treatment of metabolic liver disease and advanced hepatocellular carcinoma.

Case Report of A Rare Case of Adult-Onset Multi-site Lichen Striatus in an Adult

Summary@#Lichen striatus (LS) is a rare self-limiting inflammatory dermatosis characterized by Blaschkoid distribution. We report a 34-year-old woman with a 1-year history of asymptomatic unilateral rashes on her left trunk and limbs. Physical examination revealed light to dark brown papules, macules, patches and plaques with some erythematous areas in a Blaschkoid pattern with proven skin biopsy as well. Patient received potent topical corticosteroid therapy which resulted in the resolution of the lesion. This case report highlights two rare aspect of lichen striatus; involvement of multiple sites and late adult-onset. It is also a reminder that lichen striatus should be included in the differentials of acquired linear dermatoses.

Recommendations of diagnosis and treatment of adult-onset Still′s disease in China / 中华内科杂志

Adult-onset Still′s disease (AOSD) is a rare systemic autoinflammatory disorder. In China, standardized diagnosis and treatment for AOSD is insufficient. Based on the evidence from China and other countries, Chinese Rheumatology Association developed standardization of diagnosis and treatment of AOSD in China. The purpose is to standardize the methods for diagnosis of AOSD, treatment strategies, and reduce misdiagnosis, missed diagnosis and irreversible damage.

A Young Woman with Leukoencephalopathy and Significant Corpus Callosum Atrophy / 罕见病研究

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal-dominant progressive leukodystrophy, caused by mutations of colony stimulating factor-1 receptor (CSF1R) gene. Age of onset is usually between 40 and 50 years old and the clinical presentations include dementia, apraxia, behavioral changes, pyramidal and extrapyramidal signs. Varying clinical manifestations have led to misdiagnoses. Magnetic resonance imaging (MRI) typically reveals white matter changes with T2-Flair/DWI hyperintensity and atrophy especially for thinning of the corpus callosum. Here, we report a young woman experiencing hypomnesia for 2 years with lower extremities weakness and rigidity for 1 month. Considering the evidence of clinical manifestations, imaging and genetic test, this patient was diagnosed with ALSP.

Adult-onset Still's disease after ChAdOx1 nCoV-19 vaccine: a possible association

ABSTRACT With emergent Sars-Cov-2, a highly transmissive virus that caused millions of deaths worldwide, the development of vaccines became urgent to combat COVID-19. Although rare, important adverse effects had been described in a hypothetical scenario of immune system overstimulation or overreaction. Still's disease is a rare inflammatory syndrome of unknown etiology. It manifests as a cytokine storm, mainly IL-18 and IL-1β, and presents itself with fever spikes, joint pain, maculopapular evanescent salmon-pink skin rash, and sore throat, among other symptoms. Here, we report a case of a 44-year-old healthy male who developed adult-onset Still's disease (AOSD) with atypical symptoms after both doses of ChAdOx1 nCoV-19 vaccine with 3 months of dose interval. The medical team suspected Still's disease and started prednisone 1 mg/kg (40mg). The next day the patient showed a marked improvement in articular and chest pains and had no other fever episodes. Therefore, he was discharged to continue the treatment in outpatient care. On the six-month follow-up, the patient was free of complaints, and the progressive corticoid withdrawal plan was already finished.

Role of mean platelet volume in differential diagnosis of adult-onset Still's disease and sepsis

SUMMARY OBJECTIVES: Mean platelet volume is a simple biomarker for inflammatory disease. The purpose of this study is to evaluate the role of mean platelet volume in distinguishing adult-onset Still's disease from sepsis. METHODS: We retrospectively selected 68 patients with adult-onset Still's disease and 55 patients with sepsis between January 2015 and December 2019. Related laboratory data were collected and analyzed. RESULTS: There were no significant differences in white blood cell counts, neutrophils, lymphocytes, and C-reactive protein between adult-onset Still's disease group and sepsis group. However, patients in adult-onset Still's disease group showed higher ferritin and platelets and lower mean platelet volume and platelet distribution width than those in sepsis group (p<0.01 for both). Receiver operating characteristic curve analysis was performed to distinguish adult-onset Still's disease and sepsis. The area under the curve of mean platelet volume was 0.761 (95%CI 0.673-0.849), with a sensitivity of 79.1%, a specificity of 63.3%, and a cutoff value of 10.9 fL. In contrast, the area under the curve of combined ferritin and mean platelet volume was 0.90l (95%CI 0.837-0.965), with higher sensitivity (82.8%) and specificity (96.2%). Therefore, mean platelet volume could be used as a supplementary indicator to distinguish adult-onset Still's disease from sepsis. CONCLUSION: We suggest that mean platelet volume could be used as a supplementary biomarker for differential diagnosis of adult-onset Still's disease and sepsis in addition to ferritin.

A family of adult-onset autosomal dominant leukodystrophy / 中华神经医学杂志

Objective:To explore the clinical data and gene mutation of a family of adult-onset autosomal dominant leukodystrophy (ADLD).Methods:The clinical data and neuroimaging features of a family of ADLD (4 generation, 5 patients), admitted to our hospital in January 2020, were retrospectively analyzed. Whole exome sequencing was performed in DNA from peripheral blood of the proband and some family members. Fluorescent quantitative PCR was used to verify the pathogenic genes of the proband and family members.Results:The clinical manifestations included abnormal autonomic dysfunction (transient hypoglycemia and dilated pupil), chronic spastic paraplegia, and movement disorder in the proband and other patients in the family; their neuroimaging features included extensive involvement of the white matter, cerebellar peduncles, corpus callosum, and spinal cord. A duplication of 1-11 coding exons in the LMNB1 gene was identified in the proband. Fluorescent quantitative PCR verified that duplication of 1, 5 and 11 coding exons in the LMNB1 gene was identified in the proband and 2 sisters. Conclusion:The duplication of 1-11 coding exons in the LMNB1 gene can cause ADLD, and the clinical manifestations, neuroimaging and genetic characteristics should be comprehensively analyzed in the diagnosis of ADLD .

The role of platelet to mean platelet volume ratio in the identification of adult-onset still's disease from sepsis

OBJECTIVES: Inflammatory factors exert a significant role in the development of adult-onset Still's disease (AOSD) and sepsis. Although platelet counts and platelet parameters have long served as indicators for inflammatory diseases, their role in the differential diagnosis between adult-onset stilĺs disease and sepsis remains unclear. We designed this retrospective study to explore whether the platelet to mean platelet volume (MPV) ratio (PMR) can help to distinguish AOSD from sepsis. METHODS: A total of 110 AOSD patients and 84 sepsis patients were enrolled in the study. Seventy-three AOSD patients and 56 sepsis patients between January 2010 and June 2017 were enrolled in the test cohort to analyze PMR values, which was then validated in the validation cohort (37 AOSD patients and 28 sepsis patients between June 2017 and December 2019). RESULTS: The values of PMR were significantly higher in AOSD patients than in sepsis patients (test cohort, validation cohort, and entire cohort), In the test cohort, logistic regression analysis showed that PMR was an independent risk factor of AOSD (odds ratios [OR]: 9.22, 95% confidence interval [CI] 2.15-39.46, p=0.003). Further receiver operating characteristic curve (ROC) analysis showed that the area under the ROC curve was 0.735 (95% CI 0.631-0.839, p<0.001) for PMR alone and 0.925 (95% CI 0.869-0.980, p<0.001) for the combination of PMR and serum ferritin. Consistently, the validation cohort exhibited analogous results. CONCLUSIONS: PMR could be used as a single indicator or a complementary indicator to distinguish AOSD from sepsis.

Adult onset still's disease (aosd): a rare condition with a classic clinical presentation. case report

ABSTRACT Introduction: Adult Onset Still's Disease (AOSD) is a rare systemic inflammatory disease of unclear etiology, with low incidence and prevalence among the general population. AOSD is a common cause of fever of unknown origin (FUO) in up to 20% of cases. Due to the scarce knowledge about this disease and its diagnosis, it is usually unrecognized in the differential diagnoses, worsening the prognosis and increasing complications in some patients. Case presentation: This is the case of a 32-year-old female patient with prolonged febrile illness, who did not respond to the antimicrobial treatments previously established. She was diagnosed with AOSD according to the Yamaguchi criteria after an extensive exclusion process. She was treated with first-line treatment with corticosteroids, achieving satisfactory results Conclusions: The diagnosis of AOSD is an exhaustive process. Regardless of the availability of cutting-edge diagnostic tools, the medical history of the patient and an adequate physical examination are the most important aspects to consider.

RESUMEN Introducción. La enfermedad de Still del adulto (ESA) es una enfermedad inflamatoria sistémica de baja incidencia y prevalencia en población general y cuya etiología aún no es clara. La ESA puede causar fiebre de origen desconocido hasta en el 20% de los casos, pero suele pasar inadvertida dentro de los diagnósticos diferenciales iniciales debido a su desconocimiento, lo que empeora el pronóstico y aumenta las complicaciones en los pacientes. Presentación del caso. Paciente femenina de 32 años con síndrome febril prolongado que no respondía a tratamientos antimicrobianos instaurados previamente y en quien, finalmente, se diagnosticó ESA aplicando los criterios clasificatorios de Yamaguchi. La mujer recibió tratamiento de primera línea con corticosteroides y obtuvo buenos resultados. Conclusiones. La ESA requiere un exhaustivo proceso para su diagnóstico, en el cual, a pesar de la disponibilidad de herramientas diagnósticas avanzadas, la verificación de la historia clínica y la realización de un adecuado examen físico son los aspectos más importantes a tener en cuenta.

Enfermedad de Still del adulto: características clínicas y pronóstico de una cohorte de pacientes colombianos / Adult Still disease: Clinical features and prognosis in a cohort of Colombian patients

Resumen Introducción. La enfermedad de Still del adulto (ESA) es una condición médica poco frecuente que puede presentar complicaciones graves; sin embargo, aún no se conocen con claridad sus factores de riesgo, sus factores pronósticos, ni los aspectos asociados a las recaídas y a la refractariedad a esteroides en individuos con esta condición. Objetivos. Describir el comportamiento clínico de la ESA y determinar los factores asociados a la refractariedad a esteroides, a recaídas y a complicaciones en pacientes con esta enfermedad. Materiales y métodos. Estudio retrospectivo de cohortes que incluyó 45 pacientes diagnosticados con ESA entre enero de 2007 y enero de 2017 en 2 hospitales de referencia. Se presentan medidas de resumen. Se realizaron dos análisis de regresión logística para identificar posibles factores que expliquen la refractariedad a esteroides, las recaídas y el desarrollo de complicaciones en la población de estudio. Resultados. La edad promedio de los participantes fue 42.13±15.8 años. De los 45 pacientes incluidos, 23 (51.1%) eran mujeres, a 42 (93.3%) se le prescribieron esteroides, y, de estos, 13 (32%) se consideraron refractarios a esteroides. Se presentaron complicaciones en 12 (26.7%) individuos y su frecuencia fue mayor en pacientes con temperatura máxima >39°C. Finalmente, 33 (73.3%) pacientes tuvieron un seguimiento mayor a 1 año, de los cuales, 17 (37.8%) presentaron recaídas, las cuales fueron más frecuentes en individuos refractarios a esteroides o con esplenomegalia. Conclusión. Los pacientes que recibieron cualquier tipo de terapia biológica fueron más refractarios a esteroides; por su parte, la refractariedad a esteroides y la esplenomegalia se asociaron a un mayor número de recaídas, y la temperatura >39°C se asoció a al desarrollo de complicaciones.

Abstract Introduction: Adult Still disease (ASD) is a rare disorder that can lead to serious complications; however, risk factors associated with the development of this disease, its prognostic factors, and aspects related to relapse and steroids refractoriness in individuals with this condition are not yet clearly known. Objectives: To describe the clinical behavior of ASD and determine factors associated with steroid refractoriness, relapse, and complications in patients with this condition. Materials and methods: A retrospective cohort study was conducted in 45 patients diagnosed with ASD between January 2007 and January 2017 in 2 reference hospitals. Summary statistics are presented. In addition, two logistic regression analysis were conducted in order to identify possible factors explaining steroid refractoriness, relapses, and the development of complications in the study population. Results: Participants' average age was 42.13 ± 15.8 years. Out of the 45 patients, 23 (51.1%) were women, 42 (93.3%) were prescribed steroids, and of these, 13 (32%) were considered as steroid refractory. Complications were observed in 12 individuals (26.7%), and their frequency was higher in patients whose maximum body temperature was higher than 39°C. Finally, 33 (73.3% patients had a follow-up greater than 1 year, of which 17 (37.8%) suffered relapses; in addition, relapses were more frequent in patients who were steroid refractory or those with splenomegaly. Conclusion: Patients who were prescribed any type of biological therapy were more steroid refractory. On the other hand, steroid refractoriness and splenomegaly were associated with a higher frequency of relapses, while having a body temperature >39°C was associated with developing complications.

Doença de Still do adulto: um desafio diagnóstico / Adult-onset Still's disease: a diagnostic challenge

A doença de Still do adulto é uma rara condição inflamatória, cujo diagnóstico é um desafio, por se tratar de diagnóstico de exclusão, após vasta investigação. Manifesta-se com febre alta diária, amigdalite não supurativa, artrite, rash evanescente, leucocitose e hiperferritinemia. O presente caso demonstra a doença de Still do adulto e sua vasta investigação, motivando a realização de revisão bibliográfica sobre inovações na fisiopatologia, no diagnóstico e no tratamento.

Adult onset Still's disease is a rare inflammatory condition, the diagnosis of which is a challenge, because it is a diagnosis of exclusion, and demands extensive investigation. It manifests with high daily fever, nonsuppurative tonsillitis, arthritis, evanescent rash, leukocytosis, and hyperferritinemia. The present case de­monstrates adult-onset Still's disease and its extensive inves­tigation, motivating literature review on innovations of its pathophysiology, diagnosis, and treatment.

Adult-onset Still's disease successfully treated with Chinese herbal medicine: A case report with 15-month follow-up / 中西医结合学报

Adult-onset Still's disease (AOSD) is a rare but clinically well-known, polygenic, and systemic autoinflammatory disease, which is characterized by spiking fever, evanescent skin rash, arthralgia, and sore throat. The application of non-steroidal anti-inflammatory drugs and glucocorticoids, which are first-line therapies of AOSD, is limited due to their side effects such as liver injury or disorder of blood glucose. Therefore, patients who suffer from systemic diseases in China prefer to seek help from Chinese herbal medicine (CHM), which is an important part of complementary and alternative medicine. In this case, we report a 28-year-old male badminton coach presenting with a 15-day history of fever and skin rash, accompanied by sore throat, fatigue, myalgia and chills. Additionally, hepatosplenomegaly, multiple lymphadenopathies, aminotransferase abnormality, and elevated inflammatory factor levels were observed during hospitalization. Infectious diseases, solid tumors, hematological diseases, and common autoimmune diseases were excluded. Not benefitting from antibiotic therapy, the patient was finally diagnosed with AOSD, after a careful examination, then showed rapid remission after a six-week treatment with CHM granules based on Xiaochaihu Decoction and Yinqiao Powder. After stopping the treatment, there was no relapse within a 15-month follow-up period. To the best of our knowledge, this is the first well-documented case of this successful treatment. The present case report suggests that CHM is a reliable choice for complementary and alternative therapy for AOSD, but confirming the utility of CHM for AOSD requires further support from prospective studies.

GNA11 gene rs11084997 polymorphisms might be associated with risk of adult-onset non-surgical hypoparathyroidism / 中华内科杂志

Objective@#To investigate the association of GNA11 gene polymorphisms with the risk of adult-onset non-surgical hypoparathyroidism (Ns-HypoPT).@*Methods@#Genotyping of GNA11 single nucleotide polymorphisms (SNPs) (rs28685098, rs4806907, rs11084997 and rs78003011) was carried out in 203 patients and 209 healthy participants by sequenom MassArray iPLEX System. These SNPs are located in promoter and 3′untranslated region (3′UTR) of GNA11 gene, respectively.@*Results@#Allele and genotype frequencies of rs11084997 in patients were significantly different from those of controls (genotype GG:60.5% vs. 49.8%, GC: 35.5% vs. 41.6%, CC: 4.0% vs. 8.6%, P=0.038; G allele 78.3% vs. 70.6%, C allele 21.7% vs. 29.4%, P=0.012), and the C allele of rs11084997 carriers had a lower risk to develops Ns-HypoPT in additive and dominant genetic models [OR=0.382 (0.160-0.915), 0.647 (0.437-0.957)]. CC-Haplotype formed by the minor alleles of rs4806907 and rs11084997 was associated with a decreased risk of Ns-HypoPT in additive, dominant and recessive genetic model [OR=0.317 (0.126-0.801), 0.640 (0.430-0.952), 0.367 (0.148-0.912)].@*Conclusion@#The minor allele C of rs11084997 in GNA11 gene promoter was associated with decreased risk of Ns-HypoPT in Chinese population.