BACKGROUND: Premature ovarian insufficiency (POI) is extremely rare in the early stage of undifferentiated connective tissue disease. Patients with POI find it difficult to achieve successful pregnancy and delivery.
METHODS: A 27-year-old female visited an outpatient department for premature ovarian insufficiency (POI) and infertility. She had regular menstrual periods since she was 14 years old and had no history of systemic disease. Laboratory tests showed low estrogen (15 ng/L, range 19.6-144.2 ng/L), elevated follicle-stimulating hormone (34 U/L), low anti-Mullerian hormone (0.1 μg/L), normal prolactin (11.48 ng/mL), and thyroid stimulating hormone (TSH) levels (0.97 mU/L). She demonstrated smaller bilateral ovarian volume and positivity to antinuclear and antiphospholipid antibodies. After the failure of conventional drug therapy and in vitro fertilization, the patient became pregnant naturally after treatment with glucocorticoids.
CONCLUSIONS: Immunosuppression could help improve ovarian function and pregnancy outcomes in POI patients, but the therapeutic mechanisms are not clear and should be elucidated with more clinical studies.

Epipericardial fat necrosis (EFN) is a benign and self-limited condition of unknown cause with a good prognosis, usually affecting otherwise healthy patients. Clinically, it presents with severe acute left pleuritic chest pain, often leading the patient to the Emergency Room (ER).
A 23-year-old male, smoker (5 pack-years), was evaluated in the ER due to left pleuritic chest pain, worsening with deep breathing and Valsalva maneuver. It was not associated with trauma and did not present other symptoms. The physical examination was unremarkable. The arterial blood gases while breathing room air and the laboratory tests, including D-dimers and high-sensitivity cardiac Troponin T, were normal. The chest radiograph, electrocardiogram, and transthoracic echocardiogram showed no abnormalities. A computed tomography (CT) pulmonary angiogram showed no signs of pulmonary embolism but depicted at the left cardiophrenic angle a focal 3 cm ovoid-shaped fat lesion with stranding and thin soft tissue margins, consistent with necrosis of the epicardial fat, which was confirmed by magnetic resonance (MRI) of the chest. The patient was medicated with ibuprofen and pantoprazole, with clinical improvement in four weeks. At a two-month follow-up, he was asymptomatic and presented radiologic resolution of the inflammatory changes of the epicardial fat of the left cardiophrenic angle on chest CT. Laboratory tests revealed positive antinuclear antibodies, positive anti-RNP antibody, and positive lupus anticoagulant. The patient complained of biphasic Raynaud\'s phenomenon initiated five years ago, and a diagnosis of undifferentiated connective tissue disease (UCTD) was made.
This case report highlights the diagnosis of EFN as a rare and frequently unknown clinical condition, which should be considered in the differential diagnosis of acute chest pain. It can mimic emergent conditions such as pulmonary embolism, acute coronary syndrome, or acute pericarditis. The diagnosis is confirmed by CT of the thorax or MRI. The treatment is supportive and usually includes non-steroidal anti-inflammatory drugs. The association of EFN with UCTD has not been previously described in the medical literature.

BACKGROUND: Neuromyelitis optica spectrum disorders (NMOSD) is a group of autoimmune-mediated disorders of the central nervous system primarily involving the optic nerve and spinal cord. There are limited reports of NMOSD associated with peripheral nerve damage.
METHODS: We report a 57-year-old female patient who met the diagnostic criteria for aquaporin 4 (AQP4)-IgG positive NMOSD with undifferentiated connective tissue disease and multiple peripheral neuropathy. In addition, the patient was positive for multiple anti-ganglioside antibodies (anti-GD1a IgG antibodies and anti-GD3 IgM antibodies) and anti-sulfatide IgG antibodies in serum and cerebrospinal fluid. After treatment with methylprednisolone, gamma globulin, plasma exchange, and rituximab, the patient\'s status improved and was subsequently discharged from our hospital.
CONCLUSIONS: The neurologist should be aware of the unusual association between NMOSD and immune-mediated peripheral neuropathy undifferentiated connective tissue disease and nerve damage mediated by multiple antibodies may have combined to cause peripheral nerve damage in this patient.

OBJECTIVE: The aim of the study was to discover the interrelation between the severity of gastroesophageal reflux disease (GERD) symptoms, acid exposure time (AET), excessive daytime sleepiness (EDS) and the level of active blood plasma ghrelin in the patients with undifferentiated connective tissue disease (UCTD).
METHODS: Materials and methods: The study included 120 patients with GERD. All the patients were divided in two groups: Group I - GERD was not accompanied by the signs of connective tissue disease (n=45) and Group II - GERD developed on the background of UCTD syndrome (n=75). Daily transnasal pH monitoring was performed to determine the nature of pathological refluxes. EDS was detected by The Epworth Sleepiness Scale. Active ghrelin in blood plasma samples was determined by ELISA.
RESULTS: Results: 80% of the patients of Group II and 35.48% of Group I suffered from EDS (p<0.05). The mean daily AET index was 5.48±0.4% in Group II and 6±0.2% in Group I, in the night hours mostly when patients were in the upright position. This phenomenon contributed to a deterioration of sleep quality and the appearance of EDS and was supported by a connection between AET and EDS (r=+0.827 for Group I and r=+0.768 for Group II). The mean De Meester index was higher in the patients of Group II (23.01±2.24 in Group I vs 31.08±2.4 in Group II; p<0.05).
CONCLUSIONS: Conclusions: GERD manifestations are strongly related to the level to AET and intensity of EDS. The EDS symptoms depend on circulating ghrelin level.

Podocyte infolding glomerulopathy (PIG) is a special type of glomerular disease that has been proposed in recent years and has attracted considerable attention. PIG is characterized by the formation of microspheres and microtubules in thickened glomerular basement membrane (GBM) on electron microscopy (EM), which is recognized as podocyte cytoplasmic infolding to the GBM. However, to date, only a few cases of PIG have been reported. Herein, we report a case of a 33-year-old female with PIG with undifferentiated connective tissue disease (UCTD) in China and review the literature.

Overlap syndromes, where otherwise distinct autoimmune processes of the central and peripheral nervous systems are present in the same patient, are uncommon and have not been previously reported in sub-Saharan Africa. We present a case of a 32-year-old man who was found to have both clinically isolated syndrome and chronic inflammatory demyelinating polyneuropathy, highlighting the importance of continued efforts to establish the prevalence of demyelinating disease in the region given the limited treatment options currently available for autoimmune disease.

BACKGROUND: Acute kidney injury (AKI) accounts for 8% to 16% of hospital admissions and can quadruple hospital mortality, placing a serious burden on the health economy. Acute kidney injury (AKI) is mainly caused by dehydration, shock, infection, sepsis, heart disease, or as a side-effect of nephrotoxic drugs. About 10% to 60% of patients with rhabdomyolysis develop AKI, and 10% of AKI is attributable to rhabdomyolysis. However, rhabdomyolysis-induced AKI secondary to undifferentiated connective tissue disease (UCTD) has rarely been reported before.
METHODS: We report the case of a 50-year-old male of UCTD presented with dark brown urine, swelling and edema of the upper limbs, and decreased urine output.
METHODS: The patient was diagnosed with rhabdomyolysis-induced AKI secondary to UCTD.
METHODS: The patient was successfully treated with intravenous methylprednisolone with other supportive treatment.
RESULTS: After 3 days of initiating treatment of medicinal charcoal tablets, sodium bicarbonate and intravenous fluids upon admission, the patient\'s serum creatinine changed mildly from 145.0 μmol/L to 156.0 μmol/L, but the urinary output increased from 1000 mL/24 h to 2400 mL/24 h, with his creatine kinase (CK) and myoglobin rose from 474 IU/L to 962 IU/L and from 641.5ng/mL to 1599 ng/mL, respectively. We then tried to empirically initiate UCTD therapy by giving corticosteroids. After the administration of the 40 mg of methylprednisolone daily, the serum creatinine level dropped to 97 μmol/L the second day, CK decreased to 85 IU/L within 1 week and myoglobin decreased to 65.05 ng/mL within 10 days. When maintenance dose of 4 mg daily was given, the patient showed no abnormalities in creatinine or CK levels.
CONCLUSIONS: There have been few reports on the association between rhabdomyolysis-induced AKI and UCTD and its mechanism remains unclear. Clinicians should be aware of UCTD as a possible cause to rhabdomyolysis-induced AKI.

BACKGROUND: Renal glucosuria is a renal tubular disorder caused by genetic conditions, drugs, and poisons. Mutations in the SLC5A2 gene are recently found to be responsible for the inherited renal glucosuria, while undifferentiated connective tissue disease (UCTD) was not considered pathogenic for renal glucosuria. Here, we present a case of acquired renal glucosuria in a UCTD patient.
METHODS: A 30-year-old woman was seen in the outpatient clinic for complaints of frequent urination and dysuria. Laboratory tests showed a urinary tract infection (UTI) and persistent renal glucosuria. After antibiotic treatment, the UTI symptoms were relieved, but the renal glucosuria remained.
METHODS: Laboratory tests ruled out renal tubular acidosis and diabetes mellitus. Genetic analysis showed a heterozygous mutations in the SLC5A2 gene. Meanwhile, immunological tests showed a high antinuclear antibody titer (1:160) and an elevated anti-Rho/SSA antibody level. Schirmer test, tear breakup time, and lip biopsy results were all negative. The patient did not meet the criteria for any known connective diseases. Therefore, she was diagnosed with UCTD.
METHODS: The patient was started with the treatment of Hydroxychloroquine.
RESULTS: Hydroxychloroquine treatment resolved the renal glucosuria. The patient\'s follow- up urinalysis showed no glucosuria at all.
CONCLUSIONS: This is the first case report to demonstrate that UCTD may induce renal glucosuria in a patient with a heterozygous mutation in SLC5A2. This case suggests that during the process of diagnosing renal glucosuria, in addition to familial renal glucosuria (FRG), autoimmune diseases, though rare, should also be taken into consideration.

BACKGROUND: Dystrophic calcinosis occurs in chronically damaged tissue in patients with complicated autoimmune diseases. The therapeutic options are limited, and the treatment response rate is variable. Here, we describe a rare case of dystrophic calcinosis treated with leflunomide in a patient with overlap syndrome.
UNASSIGNED: A 53-year-old woman who was diagnosed with overlaps syndrome (systemic sclerosis [SSc] with rheumatoid arthritis [RA]), presented to our hospital with pain and swelling in both wrists, and underwent radiography, bone scan, and biopsy examination.
UNASSIGNED: This patient was diagnosed with dystrophic calcinosis in overlaps syndrome.
METHODS: The conventional disease-modifying drugs were not effective. Hence, leflunomide was administered.
RESULTS: Simple radiography and bone scan showed resolved mass-like dystrophic calcinosis on both wrists of the patient after the use of leflunomide.
CONCLUSIONS: The control of underlying disease is important in the treatment of dystrophic calcinosis. The use of leflunomide maybe an option in treatment of dystrophic calcinosis combined with RA.

BACKGROUND: Primary cutaneous amyloidosis (PCA) is a localized skin disorder characterized by the abnormal deposition of amyloid in the extracellular matrix of the dermis. The association between PCA and other diseases, although rare, has been documented for various autoimmune diseases. PCA associated with autoimmune hepatitis-primary biliary cirrhosis (AIH-PBC) overlap syndrome and Sjögren syndrome (SS) has not been previously reported in the literature.
UNASSIGNED: A 50-year-old woman presented with progressive abnormal liver enzyme levels and was referred to our department.
UNASSIGNED: Due to the patient\'s symptoms, laboratory test results, radiographic findings, and pathologic results, she was diagnosed with PCA associated with AIH-PBC overlap syndrome and SS.
METHODS: She was subsequently treated with a combination of ursodeoxycholic acid (UDCA), prednisone, and azathioprine.
RESULTS: While this treatment can achieve therapeutic success, it cannot prevent complications from cirrhosis. This patient remains alive but experienced an emergent gastrointestinal hemorrhage.
CONCLUSIONS: While we acknowledge that this is a single case, these findings extend our knowledge of immunological diseases associated with PCA and suggest a common, immune-mediated pathogenic pathway between PCA, AIH-PBC overlap syndrome, and SS. After 12 years of follow up, clinical manifestations have developed, and these autoimmune diseases have progressed. The combination of UDCA, prednisone, and azathioprine can achieve therapeutic success but cannot prevent disease progression. Routine follow up for this patient is necessary to document disease progression.