Early detection of multiple endocrine neoplasia type 1: A case report

BACKGROUND Multiple endocrine neoplasias(MENs)are a group of hereditary diseases invol-ving multiple endocrine glands,and their prevalence is low.MEN type 1(MEN1)has diverse clinical manifestations,mainly involving the parathyroid glands,gastrointestinal tract,pancreas and pituitary gland,making it easy to miss the clinical diagnosis.CASE SUMMARY We present the case of a patient in whom MEN1 was detected early.A middle-aged male with recurrent abdominal pain and diarrhea was admitted to the hos-pital.Blood tests at admission revealed hypercalcemia and hypophosphatemia,and emission computed tomography of the parathyroid glands revealed a hy-perfunctioning parathyroid lesion.Gastroscopy findings suggested a duodenal bulge and ulceration.Ultrasound endoscopy revealed a hypoechoic lesion in the duodenal bulb.Further blood tests revealed elevated levels of serum gastrin.Surgery was performed,and pathological analysis of the surgical specimens revealed a parathyroid adenoma after parathyroidectomy and a neuroendocrine tumor after duodenal bulbectomy.The time from onset to the definitive diagnosis of MEN1 was only approximately 1 year.CONCLUSION For patients who present with gastrointestinal symptoms accompanied by hyper-calcemia and hypophosphatemia,clinicians need to be alert to the possibility of MEN1.

Hybrid treatment of varied orthodontic appliances for a patient with skeletal class II and temporomandibular joint disorders:A case report and review of literature

BACKGROUND The relation between orthodontic treatment and temporomandibular disorders(TMDs)is under debate;the management of TMD during orthodontic treatment has always been a challenge.If TMD symptoms occur during orthodontic treatment,an immediate pause of orthodontic adjustments is recommended;the treatment can resume when the symptoms are managed and stabilized.CASE SUMMARY This case report presents a patient(26-year-old,female)with angle class I,skeletal class II and TMDs.The treatment was a hybrid of clear aligners,fixed appliances and temporary anchorage devices(TADs).After 3 mo resting and treatment on her TMD,the patient’s TMD symptom alleviated,but her anterior occlusion displayed deep overbite.Therefore,the fixed appliances with TAD were used to correct the anterior deep-bite and level maxillary and mandibular deep curves.After the levelling,the patient showed dual bite with centric relation and maximum intercuspation discrepancy on her occlusion.After careful examination of temporomandibular joints(TMJ)position,the stable bite splint and Invisible Mandibular Advancement appliance were used to reconstruct her occlusion.Eventually,the improved facial appearance and relatively stable occlusion were achieved.The 1-year follow-up records showed there was no obvious change in TMJ morphology,and her occlusion was stable.CONCLUSION TMD screening and monitoring is of great clinical importance in the TMD susceptible patients.Hybrid treatment with clear aligners and fixed appliances and TADs is an effective treatment modality for the complex cases.

C634Y mutation in RET-induced multiple endocrine neoplasia type 2A:A case report

BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.

Gestational diabetes mellitus combined with fulminant type 1 diabetes mellitus, four cases of double diabetes: A case report

BACKGROUND Fulminant type 1 diabetes mellitus(FT1DM)that occurs during pregnancy or the perinatal period is known as pregnancy-related FT1DM(PF),always without history of abnormal glucose metabolism.Here,we present four patients who developed FT1DM during treatment but were first diagnosed with gestational diabetes mellitus(GDM).CASE SUMMARY The clinical data of four patients with GDM combined with FT1DM admitted to our hospital between July 2018 and April 2021 were collected,and the patients and their infants were followed up.All patients were diagnosed with GDM during the second trimester and were treated.The blood glucose level elevated suddenly during the third trimester and then were diagnosed with FT1DM.Two patients had an insulin allergy,and two had symptoms of upper respiratory tract infection before onset.One patient developed ketoacidosis,and three developed ketosis.Two patients had cesarean section deliveries,and two had vaginal deliveries.The growth and development of the infants were normal.C-peptide levels were lower than those at onset,suggesting progressive impairment of islet function.The frequencies of the DRB109:01,DQB103:03,DQA103:02,DPA101:03,DPA102:02,DPB105:01,DRB401:03,G 01:01,and G 01:04 human leukocyte antigen(HLA)-G alleles were high in the present study.CONCLUSION In comparison with pregnancy-associated FT1DM(PF),patients with GDM combined with FT1DM had an older age of onset,higher body mass index,slower onset,fewer prodromal symptoms,and less acidosis.The pathogenesis may be due to various factors affecting the already fragileβ-cells of GDM patients with genetically susceptible class II HLA genotypes.We speculate that GDM combined with FT1DM during pregnancy,referred to as“double diabetes,”is a subtype of PF with its own unique characteristics that should be investigated further.

Simple and effective method for treating severe adult skeletal class II malocclusion: A case report

BACKGROUND Severe skeletal class II malocclusion is the indication for combined orthodontic and orthognathic treatment.CASE SUMMARY A woman with a chief complaint of a protruding chin and an inability to close her lips requested orthodontic camouflage.The treatment plan consisted of extracting the right upper third molar,right lower third molar,left lower second molar,and left upper third molar and moving the maxillary dentition distally using a convenient method involving microimplant nail anchors,push springs,long arm traction hooks,and elastic traction chains.After 52 months of treatment,her overbite and overjet were normal,and her facial profile was favorable.CONCLUSION This method can be used for distal movement of the maxillary dentition and to correct severe skeletal class II malocclusion in adults.

Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature

Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.

Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature

BACKGROUND Pseudohypoparathyroidism type Ia(PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel GNAS mutation.CASE SUMMARY A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. The patient had a short stature, round face, short neck, and slightly flattened nose;he also had multiple hard papules and cutaneous nodules scattered over his entire body. The patient had a significantly elevated parathyroid hormone level. His serum calcium level was reduced, while his serum phosphorus level was increased and his serum thyroid-stimulating hormone level was elevated. Skin biopsy showed osteoma cutis in subcutaneous tissue. Sanger sequencing revealed a frameshift mutation, c.399 del T(p.Ser133 Argfs*2) in exon 5 of the GNAS gene. The patient was diagnosed with PHP Ia and subclinical hypothyroidism. He was given 1,25-dihydroxyvitamin D,calcium carbonate, and synthetic L-thyroxine. After 3 months of treatment, the patient’s parathyroid hormone level decreased, and his serum calcium and serum phosphorus levels were normal. Moreover, his thyroid-stimulating hormone level decreased.CONCLUSION These findings can help dermatologists to diagnose PHP Ia in patients with cutaneous nodules as the main early clinical feature.

Treatment of Stanford type A aortic dissection with triple prefenestration, reduced diameter, and three-dimensional-printing techniques: A case report

BACKGROUND A 63-year-old female was diagnosed with acute Stanford type A aortic dissection.The patient had pain in the chest and back for 1 wk.The computed tomography angiography(CTA)showed Stanford type A aortic dissection(Myla type III aortic arch).The intimal tear was located at the top of the aortic arch and retrograded to the ascending aorta.CASE SUMMARY Preoperatively,a three-dimensional(3D)-printed model of the aortic arch was made according to CTA data.Then,under the guidance of the 3D-printed aortic model,a pre-fenestrated stent-graft was customized,and the diameter of the stent-graft was reduced intraoperatively by surgeons.3D printing,triple prefenestration,and reduced diameter techniques were used during the surgery.The CTA examinations were performed at the 3rd mo and 1st year after the surgery;the results showed that the aortic dissection was repaired without endoleak,and all three branches of the aortic arch remained unobstructed.CONCLUSION Applying the triple pre-fenestration technique for aortic arch lesions was feasible and minimally invasive in our case.The technique provides a new avenue for thoracic endovascular aortic repair of Stanford type A aortic dissection.

Microscopic removal of type Ⅲ dens invaginatus and preparation of apical barrier with mineral trioxide aggregate in a maxillary lateral incisor:A case report and review of literature

BACKGROUND Invaginated teeth pose greater challenges in clinical management because of their complex configuration.With advancements in equipment and materials,such as the dental operation microscope,cone-beam computed tomography and mineral trioxide aggregate,the preservation rate of type Ⅲ dens invaginatus could be greatly increased.CASE SUMMARY This case report presented a 31-year-old woman with complaints of spontaneous swelling and pain in the right maxillary lateral tooth.With the aid of cone-beam computed tomography,type Ⅲ dens invaginatus with apical periodontitis was diagnosed and confirmed.Three-visit endodontic treatment was performed.In the first visit,the invagination was carefully removed under the dental operation microscope,and chemomechanical preparation was done.In the second visit,mineral trioxide aggregate apical barrier surgery was performed in this tooth.In the third visit,the canal was finally obturated with thermoplastic gutta-percha to recover the crown morphology.A 26-mo follow-up revealed a satisfied outcome both in the radiographic and oral examinations.CONCLUSION In this case,removal of the entire abnormal structure provided great convenience for the follow-up treatment.When confronted with the same clinical case in the future,we can take a similar approach to address it.

Total endovascular repair of an intraoperative stent-graft deployed in the false lumen of Stanford type A aortic dissection: A case report

BACKGROUND A 46-year-old male underwent ascending aortic replacement,total arch replacement,and descending aortic stent implantation for Stanford type A aortic dissection in 2016.However,an intraoperative stent-graft was deployed in the false lumen inadvertently.This caused severe iatrogenic thoracic and abdominal aortic dissection,and the dissection involved many visceral arteries.CASE SUMMARY The patient had pain in the chest and back for 1 mo.A computed tomography scan showed that the patient had secondary thoracic and abdominal aortic dissection.The ascending aortic replacement,total arch replacement,and descending aortic stent implantation for Stanford type A aortic dissection were performed 2 years prior.An intraoperative stent-graft was deployed in the false lumen.Endovascular aneurysm repair was performed to address this intractable situation.An occluder was used to occlude the proximal end of the true lumen,and a covered stent was used to direct blood flow back to the true lumen.A three-dimensional printing technique was used in this operation to guide prefenestration.The computed tomography scan at the 1stmo after surgery showed that the thoracic and abdominal aortic dissection was repaired,with all visceral arteries remaining patent.The patient did not develop renal failure or neurological complications after surgery.CONCLUSION The total endovascular repair for false lumen stent-graft implantation was feasible and minimally invasive.Our procedures provided a new solution for stent-graft deployed in the false lumen,and other departments may be inspired by this case when they need to rescue a disastrous stent implantation.

Orthodontic-surgical treatment for severe skeletal class Ⅱ malocclusion with vertical maxillary excess and four premolars extraction: A case report

BACKGROUND Patient satisfaction with facial appearance at the end of orthodontic camouflage treatment is very important, especially for skeletal malocclusion. This case report highlights the importance of the treatment plan for a patient initially treated with four-premolar-extraction camouflage, despite indications for orthognathic surgery.CASE SUMMARY A 23-year-old male sought treatment complaining about his unsatisfactory facial appearance. His maxillary first premolars and mandibular second premolars had been extracted, and a fixed appliance had been used to retract his anterior teeth for two years without improvement. He had a convex profile, a gummy smile, lip incompetence, inadequate maxillary incisor inclination, and almost a class I molar relationship. Cephalometric analysis showed severe skeletal class Ⅱ malocclusion(A point-nasion-B point = 11.5°) with a retrognathic mandible(sella-nasion-B point = 75.9°), a protruded maxilla(sella-nasion-A point = 87.4°), and vertical maxillary excess(upper incisor to palatal plane = 33.2 mm). The excessive lingual inclination of the maxillary incisors(upper incisor to nasion-A point line =-5.5°)was due to previous treatment attempts to compensate for the skeletal class Ⅱ malocclusion. The patient was successfully retreated with decompensating orthodontic treatment combined with orthognathic surgery. The maxillary incisors were repositioned and proclined in the alveolar bone, the overjet was increased, and a space was created for orthognathic surgery, including maxillary impaction, anterior maxillary back-setting, and bilateral sagittal split ramus osteotomy to correct his skeletal anteroposterior discrepancy. Gingival display was reduced, and lip competence was restored. In addition, the results remained stable after 2 years. The patient was satisfied with his new profile as well as with the functional malocclusion at the end of treatment.CONCLUSION This case report provides orthodontists a good example of how to treat an adult with severe skeletal class Ⅱ malocclusion with vertical maxillary excess after an unsatisfactory orthodontic camouflage treatment. Orthodontic and orthognathic treatment can significantly correct a patient’s facial appearance.

Awake craniotomy for auditory brainstem implant in patients with neurofibromatosis type 2:Four case reports

BACKGROUND The auditory brainstem implant(ABI)is a significant treatment to restore hearing sensations for neurofibromatosis type 2(NF2)patients.However,there is no ideal method in assisting the placement of ABIs.In this case series,intraoperative cochlear nucleus mapping was performed in awake craniotomy to help guide the placement of the electrode array.CASE SUMMARY We applied the asleep-awake-asleep technique for awake craniotomy and hearing test via the retrosigmoid approach for acoustic neuroma resections and ABIs,using mechanical ventilation with a laryngeal mask during the asleep phases,utilizing a ropivacaine-based regional anesthesia,and sevoflurane combined with propofol/remifentanil as the sedative/analgesic agents in four NF2 patients.ABI electrode arrays were placed in the awake phase with successful intraoperative hearing tests in three patients.There was one uncooperative patient whose awake hearing test needed to be aborted.In all cases,tumor resection and ABI were performed safely.Satisfactory electrode effectiveness was achieved in awake ABI placement.CONCLUSION This case series suggests that awake craniotomy with an intraoperative hearing test for ABI placement is safe and well tolerated.Awake craniotomy is beneficial for improving the accuracy of ABI electrode placement and meanwhile reduces non-auditory side effects.

Coexistence of ovarian serous papillary cystadenofibroma and type A insulin resistance syndrome in a 14-year-old girl: A case report

BACKGROUND Type A insulin resistance syndrome is a rare disorder caused by mutations in the gene encoding the insulin receptor.Its coexistence with ovarian serous papillary cystadenofibroma is even rarer.CASE SUMMARY A 14-year-old girl developed type A insulin resistance syndrome and showed high fasting insulin,glucose,and hemoglobin A1c(HbA1c)levels.The girl suffered from ovarian serous papillary cystadenofibroma.The laboratory results were as follows:fasting insulin was 2624.90 pmol/L and HbA1c was 8.5%.A heterozygous missense mutation on exon 20 of the insulin receptor gene(c.3601C>T,Arg1201Trp)was observed.The histopathological diagnosis was a cystic lesion that extended to the upper right uterus,indicating a right ovarian serous papillary cystadefibroma accompanied by focal interstitial hyperplasia.The patient was treated with metformin for over 6 mo.Additionally,laparoscopic resection(bilateral)of the ovarian lesion and laparoscopic intestinal adhesiolysis were performed under general anesthesia.Diet therapy combined with exercise was then initiated.The patient had an uneventful recovery.The patient also showed improved blood glucose control,with reduced levels of fasting insulin(857.84 pmol/L)and HbA1c(7.0%).CONCLUSION Insulin resistance may play a significant role in the induction of tumors.It is important to investigate further the association between insulin resistance and tumors and the underlying mechanism.

Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C＞T mutation in CLCN7

Type II autosomal dominant osteopetrosis(ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7(CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoclast function remains largely unknown. This study was designed to investigate gene mutations and osteoclast function in a case that was clinically diagnosed as ADO2. Genomic DNA was extracted from blood samples of this patient, and the 25 exons of CLCN7 were amplified. Peripheral blood from the ADO2 subject and a healthy age- and sex-matched control was used to evaluate osteoclastogenesis, osteoclast morphology, and bone resorption. Analysis of DNA from the patient showed a germline heterozygous missense mutation,c.1856C>T(p.P619L), in exon 20 of CLCN7. A similar homozygous mutation at this site was previously reported in a patient with autosomal recessive osteopetrosis. When cultured, the peripheral blood mononuclear cells(PBMCs) from the ADO2 patient spontaneously differentiated into mature osteoclasts in vitro. The ADO2 patient’s PBMCs formed enhanced, but heterogeneous, osteoclasts in both the presence and absence of macrophage-colony stimulating factor, and nuclear factor-?B ligand. Bone resorption was reduced in the ADO2 patient’s osteoclasts, which exhibited aberrant morphology and abnormal distribution of integrin avβ3. Gene analysis found increased c-fos expression and reduced Rho A and integrin beta 3expression in ADO2 cells. In conclusion, our data suggest that enhanced, heterogeneous osteoclast induction may be an intrinsic characteristic of ADO2.

Treatment and five-year follow-up of type A insulin resistance syndrome:A case report

BACKGROUND Type A insulin resistance syndrome(TAIRS)is a rare disorder characterized by severe insulin resistance due to defects in insulin receptor signaling.No specific drugs are available for the treatment of TAIRS.We report a case of TAIRS successfully treated with pioglitazone and flutamide for 5 years.CASE SUMMARY We present the rare case of a female patient aged 11 years and 9 mo with type A insulin resistance and an INSR heterozygous mutation(c.3614 C>T),who was treated with a combination of pioglitazone and flutamide.This treatment regimen reduced hemoglobin A1 c,fasting insulin and androgen levels.CONCLUSION Pioglitazone attenuated insulin resistance in this patient with TAIRS,and flutamide ameliorated masculinization.

Type A aortic dissection developed after type B dissection with the presentation of shoulder pain: A case report

BACKGROUND Aortic dissection(AD)is a life-threatening condition with a high mortality rate without immediate medical attention.Early diagnosis and appropriate treatment are critical in treating patients with AD.In the emergency department,patients with AD commonly present with classic symptoms of unanticipated severe chest or back pain.However,it is worth noting that atypical symptoms of AD are easily misdiagnosed.CASE SUMMARY A 51-year-old woman was first diagnosed with scapulohumeral periarthritis due to left shoulder pain.After careful examination of her previous medical history and contrast-enhanced computed tomography angiography,the patient was diagnosed with a new type A AD after chronic type B dissection in the ascending aorta.The patient was successfully treated with surgical replacement of the dissected aortic arch and remains in good health.CONCLUSION New retrograde type A AD after chronic type B dissection is relatively rare.It is worth noting that a physician who has a patient with suspected AD should be vigilant.Both patient medical history and imaging tests are crucial for a more precise diagnosis.

KIT and platelet-derived growth factor receptor α wild-type gastrointestinal stromal tumor associated with neurofibromatosis type 1: Two case reports

BACKGROUND Gastrointestinal stromal tumors(GISTs) associated with neurofibromatosis are uncommon compared to their gastrointestinal counterparts. Patients with neurofibromatosis type 1(NF-1) have an increased risk of developing gastrointestinal tumors, including rare types such as GIST.CASE SUMMARY A 60-year-old male Chinese patient was diagnosed with NF-1 10 years ago and presented with upper abdominal discomfort and black stools. Endoscopic ultrasonography and an enhanced abdominal computed tomography scan revealed a mass located 4 cm from the muscular layer of the descending duodenum. A 59-year-old Chinese woman who was diagnosed with NF-1 25 years ago presented with sudden unconsciousness and black stools. Multiple masses in the duodenum were noted by echogastroscopy and an enhanced abdominal computed tomography scan. Both patients presented with cutaneous neurofibromas. The histologic examination of tumors from both patients revealed spindle cells and low mitotic activity. Immunohistochemically, the tumor cells showed strong positivity for KIT(CD117), DOG-1, CD34, and Dehydrogenase Complex Subunit B, and negativity for SMA, desmin, S-100, and β-catenin. None of the six tumors from two patients had KIT exon 9, 11, 13, or 17 or platelet-derived growth factor receptor α exon 12 or 18 mutation, which is a typical finding for sporadic GISTs. None of the six tumors from the two patients had a BRAFV600 E mutation. The patients were alive and well during the follow-up period(range:0.6-5 yr).CONCLUSION There have been only a few previous reports of GISTs associated with NF-1.Although GISTs associated with NF-1 have morphologic and immunohistochemical similarities with GISTs, the pathogenesis, incidence,genetic background, and prognosis are not completely known. A medical history of NF-1 in a patient who has gastrointestinal bleeding or anemia and an intraabdominal mass with nonspecific computed tomography features may help in diagnosing GIST by virtue of the well-known association of these two entities.Molecular genetic studies of cases indicated that GISTs in NF-1 patients have a different pathogenesis than sporadic GISTs.

Class hierarchical test case generation algorithm based on expanded EMDPN model

A new model of event and message driven Petri network(EMDPN) based on the characteristic of class interaction for messages passing between two objects was extended. Using EMDPN interaction graph, a class hierarchical test-case generation algorithm with cooperated paths (copaths) was proposed, which can be used to solve the problems resulting from the class inheritance mechanism encountered in object-oriented software testing such as oracle, message transfer errors, and unreachable statement. Finally, the testing sufficiency was analyzed with the ordered sequence testing criterion(OSC). The results indicate that the test cases stemmed from newly proposed automatic algorithm of copaths generation satisfies synchronization message sequences testing criteria, therefore the proposed new algorithm of copaths generation has a good coverage rate.

Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia:A case report

BACKGROUND Glycogen storage disease type Ia(GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase(G6Pase),leading to disturbed glycogenolysis and gluconeogenesis.Patients with GSDIa show severe fasting hypoglycemia,hyperlipidemia,hyperlactacidemia,and hyperuricemia,which are associated with fatal outcomes in pregnant women and fetuses.CASE SUMMARY Herein,we report the case of a 24-year-old female who on her first visit to the hospital,presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia,and frequent hypoglycemia occurred during the treatment.Genetic tests revealed a mutation in the G6Pase gene(G6PC) at 17q21,the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment.She has been treated with a continuous double filtration plasmapheresis(DFPP) strategy to remove blood lipids,and a cornstarch diet therapy.The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy.DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.

Improved super-elastic Ti–Ni alloy wire intrusion arch for skeletal class Ⅱ malocclusion combined with deep overbite:A case report

BACKGROUND Treatment for deep overbite cases can be difficult. This case report presents some techniques with improved super-elastic Ti–Ni alloy wire(ISW) for deep overbite correction.CASE SUMMARY A 21-year-old woman had a chief complaint of flaring maxillary teeth. Orthodontic evaluation revealed a skeletal class Ⅱ malocclusion and a convex profile appearance. A deep overbite with palatal impingement and large overjet were also noted. Bilateral maxillary first premolars were extracted, and spaces were closed using a closed-coil spring and elastic chain. The deep overbite was corrected by applying the ISW curve and ISW intrusion arch. Intermaxillary elastics was used to adjust the intermaxillary relationship. Active treatment took approximately 3 years, and the appearance and dentition alignment noticeably improved.CONCLUSION The use of the ISW technique in a case of skeletal class Ⅱ malocclusion with deep overbite achieved a desirable result, and the patient was satisfied with the treatment outcome.