Σφακιανάκης Αλέξανδρος
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5 Άγιος Νικόλαος
Κρήτη 72100
00302841026182
00306932607174
alsfakia@gmail.com

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Κυριακή 16 Μαΐου 2021

Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report

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World J Clin Cases. 2021 May 6;9(13):3079-3089. doi: 10.12998/wjcc.v9.i13.3079.

ABSTRACT

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease. Very few patients suffering from HHT present with associated pulmonary arterial hypertension (PAH), which may result in a poor prognosis. Here, we report a case of HHT with PAH. The patient's clinical manifestations and treatment as well as genetic analysis of family members are reviewed, in order to raise awareness of this multimorbidity.

CASE SUMMARY: A 45-year-old Chinese woman was admitted to the hospital to address a complaint of intermittent shortness of breath, which had lasted over the past 2 years. She also had a 30-year history of recurrent epistaxis and 5-year history of anemia. She reported that the shortness of breath had aggravated gradually over the 2 years. Physical examination discovered anemia and detected gallop rhythm in t he precordium. Chest computerized tomography and cardiac ultrasound demonstrated PAH and hepatic arteriovenous malformation. The formal clinical diagnosis was HHT combined with PAH. The patient was treated with ambrisentan and her condition improved for a time. She died half a year after the diagnosis. Genetic testing revealed the patient and some family members to carry an activin A receptor-like type 1 mutation (c. 1232G>A, p. Arg411Gln); the family was thus identified as an HHT family.

CONCLUSION: We report a novel gene mutation (c. 1232G>A, p. Arg411Gln) in a Chinese HHT patient with PAH.

PMID:33969094 | PMC:PMC8080754 | DOI:10.12998/wjcc.v9.i13.3079

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Congenital bilateral cryptorchidism in an infant conceived after maternal breast cancer treatment: A case report

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World J Clin Cases. 2021 Apr 26;9(12):2923-2929. doi: 10.12998/wjcc.v9.i12.2923.

ABSTRACT

BACKGROUND: The incidence of breast cancer among women of reproductive age is increasing, as well as the desire for children at late childbearing age. Identifying factors that may be associated with fetal malformation and maternal and fetal prognosis has gained importance. We describe a 32-year-old woman with breast cancer who gave birth to a son with congenital bilateral cryptorchidism after treatment, with a literature review performed.

CASE SUMMARY: A 32-year-old woman with breast cancer who had been treated by surgery and radiotherapy experienced recurrence and underwent a second surgery, adjuvant chemotherapy, and targeted therapy. Her tumor cells were negative for estrogen receptor (ER) α, progesterone receptor (PR), and p53; positive for ERβ, human epidermal growth factor receptor-2 (HER2), epidermal growth factor receptor (EGFR), a nd Ki67. She had pathogenic BRCA gene mutations. She became pregnant within 2 years and delivered a boy with congenital bilateral cryptorchidism. The boy underwent bilateral orchidopexy. As of this writing, the woman and her son are both healthy.

CONCLUSION: HER2 overexpression, positivity for EGFR, Ki67, and ER, and PR negativity are associated with a poor prognosis in breast cancer. While no link has been established statistically between treatment for breast cancer and cryptorchidism in a subsequent pregnancy, this case suggests the possibility that ERβ and gene mutations may be contributing factors.

PMID:33969078 | PMC:PMC8058667 | DOI:10.12998/wjcc.v9.i12.2923

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Misdiagnosed dystrophic epidermolysis bullosa pruriginosa: A case report

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World J Clin Cases. 2021 May 6;9(13):3090-3094. doi: 10.12998/wjcc.v9.i13.3090.

ABSTRACT

BACKGROUND: Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of DEB, characterized by recurrent pruritus of the extremities, pruritus papules, nodules, and mossy-like plaques. To date, fewer than 100 cases have been reported. We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment, thereby serving as a guide to correct diagnosis and treatment.

CASE SUMMARY: A 30-year-old man presented with recurrent itching plaques of 1-year duration in the left tibia that aggravated and involved both legs and the back. Examination revealed multiple symmetrical, purple, and hyperpigmented papules and nodules with surface exfoliation involving the tibia and dorsum of the neck with negative Nissl's sign, no abnormalities in the skin, mucosa, hair, or fingernail, and no local lymp h node enlargement. Blisters were never reported prior to presentation. Serum immunoglobulin E level was 636 IU/mL. Clinical manifestations suggested DEB-Pr. Histological examination showed subepidermal fissure, scar tissue, and milia. Direct immunofluorescence showed no obvious abnormalities. However, we were unable to perform electron microscopy or genetic research following his choice. We treated him with topical tacrolimus. After 2 wk, the itching alleviated, and the skin lesions began to subside. No adverse reactions were observed during treatment.

CONCLUSION: Topical tacrolimus is a safe treatment option for patients with DEB-Pr and can achieve continuous relief of severe itching.

PMID:33969095 | PMC :PMC8080732 | DOI:10.12998/wjcc.v9.i13.3090

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Budd-Chiari syndrome associated with liver cirrhosis: A case report

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World J Clin Cases. 2021 Apr 26;9(12):2937-2943. doi: 10.12998/wjcc.v9.i12.2937.

ABSTRACT

BACKGROUND: Budd-Chiari syndrome (BCS) is a rare heterogeneous liver disease characterized by obstruction of the hepatic venous outflow tract. The incidence of BCS is so low that it is difficult to detect in general practice and difficult to include within the scope of routine diagnosis. The clinical manifestations of BCS are not specific; hence, BCS tends to be misdiagnosed.

CASE SUMMARY: We report the case of a 33-year-old Chinese woman who presented with progressive distension in the upper abdomen. She was initially misdiagnosed with liver cirrhosis (LC) due to abnormalities on an upper abdominal computed tomography scan. Although she was taking standard anti-cirrhosis therapy, her symptoms did not improve. Magnetic resonance imaging showed caudate lobe hypertrophy; and dilated lumbar and hemiazygos veins. Venography revealed membranous o bstruction of the inferior vena cava owing to congenital vascular malformation. A definitive diagnosis of BCS was made. Balloon angioplasty was performed to recanalize the obstructed inferior vena cava and the patient's symptoms were completely resolved.

CONCLUSION: BCS lacks specific clinical features and can eventually lead to LC. Clinicians and radiologists must carefully differentiate BCS from LC. Correct diagnosis and timely treatment are vital to the patient's health.

PMID:33969080 | PMC:PMC8058661 | DOI:10.12998/wjcc.v9.i12.2937

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Patients with cirrhosis during the COVID-19 pandemic: Current evidence and future perspectives

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World J Clin Cases. 2021 May 6;9(13):2951-2968. doi: 10.12998/wjcc.v9.i13.2951.

ABSTRACT

The outbreak of coronavirus disease-2019 (COVID-19) has resulted in a global public health emergency. Patients with cirrhosis were deemed more susceptible to viral infection because of their dysregulated immune response. Similar to the general population, cirrhotic patients exhibit various degrees of COVID-19-related liver injury, which could be attributed to direct virus cytotoxicity, systemic immune system activation, drug-related liver injury, reactivation of pre-existing liver disease, and hypoxic hepatitis. The clinical symptoms in patients with cirrhosis and COVID-19 were similar to those in the general population with COVID-19, with a lower proportion of patients with gastrointestinal symptoms. Although respiratory failure is the predominant cause of mortality in cirrhotic patients with COVID-19, a significant proportion of them lack initial respiratory symptoms. Most evidence has shown that cirrhotic patients have relatively higher rates of morbidity and mortality associated with COVID-19. Advanced cirrhosis was also proposed as an independent factor affecting a poor prognosis and the need to consider COVID-19 palliative care. General measures implemented to prevent the transmission of the virus are also essential for cirrhotic patients, and they should also receive standard cirrhosis care with minimal interruptions. The efficacy of the available COVID-19 vaccines in cirrhotic patients still needs investigation.

PMID:33969082 | PMC:PMC8080735 | DOI:10.12998/wjcc.v9.i13.2951

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Sarcomatoid carcinoma of the pancreas - multimodality imaging findings with serial imaging follow-up: A case report and review of literature

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World J Clin Cases. 2021 May 6;9(13):3102-3113. doi: 10.12998/wjcc.v9.i13.3102.

ABSTRACT

BACKGROUND: Sarcomatoid carcinoma of the pancreas is extremely rare and has an extremely poor prognosis. Although a few cases of sarcomatoid carcinoma of pancreas have been reported, most are focused on a histopathological review. To the best of our knowledge, there are no reports documenting multimodality imaging characteristics and chronological changes with emphasis on radiologic features.

CASE SUMMARY: A 64-year-old woman was admitted to Chungnam National University Hospital with acute appendicitis. Contrast-enhanced computed tomography of the abdomen revealed a 2.6 cm × 2.8 cm multilobular cystic mass in the pancreatic tail. The pancreatic lesion showed suspected mural nodules and thin septa. Hence, mucinous cystic neoplasm of pancreas was considered. After 7 mo, the patient was readmitted for repeated epigastric abdominal pain and naus ea. Follow-up contrast-enhanced computed tomography of the abdomen and magnetic resonance imaging revealed a marked enlargement (5.4 cm × 4 cm), with a predominant internal solid component. The mass showed low signal intensity on a T1-weighted image and heterogeneously intermediate high signal intensity on a T2-weighted image. It showed diffusion restriction and peripheral rim enhancement on an arterial phase image, and progressive enhancement on portal venous and delayed phase images. Distal pancreatectomy was performed. Based on the morphology and immunohistochemical staining of the specimen, pancreatic sarcomatoid carcinoma was diagnosed.

CONCLUSION: We present the computed tomography, magnetic resonance imaging, and positron emission tomography computed tomography findings, pathologic features, and chronological changes for preoperative diagnosis.

PMID:33969097 | PMC:PMC8080743 | DOI:10.12998/wjcc.v9.i13.3102

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Scrotal septal flap and two-stage operation for complex hypospadias: A retrospective study

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World J Clin Cases. 2021 May 6;9(13):2983-2993. doi: 10.12998/wjcc.v9.i13.2983.

ABSTRACT

BACKGROUND: Complex hypospadias is a surgical challenge.

AIM: To present the long-term outcomes of two-stage repair of complex hypospadias using a scrotal septal flap.

METHODS: This was a retrospective study of patients with complex hypospadias who were operated on between January 1st, 2001, and January 1st, 2019, at a single hospital using a scrotal septal flap (two-stage surgery) or prepuce flap (one-stage surgery; control group). In the scrotal group, the urethra was first repaired using oral mucosa; in the second stage, a scrotal septal flap was used as a second imper-meable layer. Maximal/average urinary flow rates after surgery were compared. All patients were followed for ≥ 6 mo (range: 6-96 mo).

RESULTS: Ninety-seven patients were included (46 in the scrotal group and 51 in the prepuce group). The m aximal urinary flow rate was 15.4 ± 2.1 mL/s in the scrotal group and 14.3 ± 3.0 mL/s in the control group (P = 0.035). The average urinary flow rate was 8.4 ± 2.3 mL/s in the scrotal group and 7.5 ± 1.5 mL/s in the control group (P = 0.019). The proportion of patients achieving good therapeutic effects was higher in the scrotal group than in the control group [24 (52.2%) vs 16 (31.4%), P = 0.042; 34 (73.9%) vs 25 (49.0%), P = 0.014]. The scrotal flap two-stage surgery was independently associated with a higher maximal urinary flow rate (OR = 2.416, 95%CI: 1.026-5.689, P = 0.044) and with a higher average flow rate (OR = 2.484, 95%CI: 1.054-5.854, P = 0.038).

CONCLUSION: In complex hypospadias, a scrotal septal flap could be a versatile and reliable option for resurfacing the penis.

PMID:33969084 | PMC:PMC8080759 | DOI:10.12998/wjcc.v9.i13.2983

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Acute pancreatitis and small bowel obstruction caused by a migratory gastric bezoar after dissolution therapy: A case report

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World J Clin Cases. 2021 May 6;9(13):3114-3119. doi: 10.12998/wjcc.v9.i13.3114.

ABSTRACT

BACKGROUND: Bezoars are conglomerates of indigestible foreign material that can be found in the gastrointestinal tract. Gastric ulcer, gastrointestinal perforation, and intestinal obstruction are the main complications. Acute pancreatitis secondary to bezoar is rare. Here, we present a rare case of a migratory gastric bezoar complicated by acute pancreatitis and small bowel obstruction after dissolution therapy.

CASE SUMMARY: A-65-year-old woman underwent gastroscopy because of epigastric pain, which revealed a huge bezoar and a gastric ulcer 10 d prior. The patient was discharged with a prescription of drinking 1 L Coca-Cola daily for 6 d, without repeat gastroscopy. However, she suddenly developed epigastric pain, nausea and vomiting for 3 d. Abdominal computed tomography (CT) revealed mild inflammation of the pancreas. Magnetic resonance c holangiopancreatography showed no abnormalities in the pancreatic duct or common bile duct. The nasogastric tube still showed drainage of more than 1.6 L of dark fluid each day after symptomatic treatment. Abdominal CT re-examination suggested intestinal obstruction. Esophagogastroduodenoscopy revealed a huge yellowish hard mass in the jejunal lumen, and we used the basket and net to fragment the bezoar. She was discharged with a good outcome.

CONCLUSION: Endoscopic therapy is the first choice for gastric bezoars. When mechanical disintegration cannot be achieved, timing of repeat endoscopy is important during Coca-Cola dissolution therapy.

PMID:33969098 | PMC:PMC8080734 | DOI:10.12998/wjcc.v9.i13.3114

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Prognostic value of hemodynamic indices in patients with sepsis after fluid resuscitation

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World J Clin Cases. 2021 May 6;9(13):3008-3013. doi: 10.12998/wjcc.v9.i13.3008.

ABSTRACT

BACKGROUND: Sepsis usually causes hemodynamic abnormalities. Hemodynamic index is one of the factors to identify the severity of sepsis and an important parameter to guide the procedure of fluid resuscitation. The present study investigated whether the assessment of hemodynamic indices can predict the outcomes of septic patients undergoing resuscitation therapy.

AIM: To evaluate the prognostic value of hemodynamic indices in patients with sepsis after fluid resuscitation.

METHODS: A retrospective study was conducted in 120 patients with sepsis at Hainan General Hospital/Hainan Affiliated Hospital of Hainan Medical University between October 2016 and October 2019. All patients were treated with sodium chloride combined with dextran glucose injection for fluid resuscitation. Patients' hemodynamic parameters were monitored, including heart rate (HR), cardiac index (CI), systemic vascular resistance index (SVRI), mean arterial pressure (MAP), central venous pressure (CVP), and central venous oxygen saturation. The prognostic value of hemodynamic indices was determined based on the prognosis status.

RESULTS: During fluid resuscitation, 86 patients developed septic shock and 34 did not. Ninety-nine patients survived and 21 patients died at 28 d after the treatment. Heart rate, CI, mean arterial pressure, SVRI, and CVP were higher in patients with septic shock and patients who died from septic shock than in non-shock patients and patients who survived, and central venous oxygen saturation was lower in patients with shock and patients who died than in non-shock patients and the survivors (P < 0.05). When prognosis was considered as a dependent variable and hemodynamic parameters was considered as independent variables, the results of a logistic regression analysis showed that CI, SVRI, and CVP were indepen dent risk factors for septic shock, and CI was an independent risk factor for 28-d mortality (P < 0.05).

CONCLUSION: Hemodynamic indices can be used to evaluate the prognosis of septic patients after fluid resuscitation.

PMID:33969086 | PMC:PMC8080751 | DOI:10.12998/wjcc.v9.i13.3008

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Intracardiac, pulmonary cement embolism in a 67-year-old female after cement-augmented pedicle screw instrumentation: A case report and review of literature

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World J Clin Cases. 2021 May 6;9(13):3120-3129. doi: 10.12998/wjcc.v9.i13.3120.

ABSTRACT

BACKGROUND: We report a case of Intracardiac, pulmonary, and intravenous cement embolism after cement-augmented pedicle screw instrumentation in treating spondylolisthesis underlying osteoporotic bone, which was successfully managed by conservative treatment. We describe the treatment and outcome of the patient, hoping to shed light on the management of bone cement embolism.

CASE SUMMARY: A 67-year-old female suffered from progressive low back pain and numbness in lower extremities for 30 years. She was diagnosed with L4 and L5 spondylolisthesis, spinal stenosis, and osteoporosis. The patient underwent spinal canal decompression, an interbody fusion of L4/5 and L5/S1, cement-augmented pedicle screw instrumentation in L4-L5 segments, and regular pedicle screw in S1 segments. Three days postoperatively, a sudden drop in oxygen saturation occurr ed. Computerized tomography scan confirmed Intracardiac, pulmonary, and intravenous embolism. The patient was treated conservatively by continuous low-flow oxygen inhalation, anti-coagulation, and antibiotic therapy for 1 mo and continued anticoagulation treatment for 6 mo. The patient showed no further symptoms in a 30-mo follow-up.

CONCLUSION: Intracardiac, pulmonary cement embolism after cement-augmented pedicle screw instrumentation is extremely rare. Careful clinical and radiographic evaluation is required in multiple sites of bone cement embolism. Conservative treatment may be a primary consideration in scattered emboli without life-threatening conditions, but a clinical decision should be made on an individualized basis.

PMID:33969099 | PMC:PMC8080748 | DOI:10.12998/wjcc.v9.i13.3120

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