Ruxolitinib in Aicardi-Goutières syndrome

Metabolic Brain Disease - Aicardi-Goutières Syndrome (AGS) is a monogenic leukodystrophy with pediatric onset, clinically characterized by a variable degree of neurologic impairment. It...     

Application of molecular methods for detection and transmission analysis of mycobacterium tuberculosis drug resistance in patients attending a reference hospital in Italy

A molecular analysis of drug-resistant isolates of Mycobacterium tuberculosis was done in a population with a high prevalence of human immunodeficiency virus infection. Seventy-one consecutive isolates were tested for genotypic resistance to isoniazid, rifampicin, streptomycin, and ethambutol by polymerase chain reaction-single strand conformation polymorphism analysis and automated sequencing of target regions. Phenotypic and genotypic resistance to isoniazid, rifampicin, streptomycin, and ethambutol were detected in 23.4%, 11.2%, 7%, and 5.6% of isolates and in 87%, 88%, 40%, and 100% of resistant isolates, respectively. Specificity was 100% for all target regions. When rpoB, katG, and ahpC mutation analysis were combined, 86% of resistant isolates to any drug were identified. No mutations in inhA were found in isoniazid-resistant isolates. Molecular detection of drug resistance, particularly for isoniazid and rifampicin, may represent a sensitive and very specific technique. The strategy of selecting rpoB, katG, and ahpC to quickly identify most resistant isolates, with a relevant saving of resources, is warranted.     

Detection of ectopic thyroid remnants: A serious diagnostic dilemma. When molecular biology and immunohistochemistry can solve the problem

The presence of ectopic thyroid tissue is a frequent diagnostic feedback related to a possible histogenetic abnormality or a result of post-surgical seeding. The important challenge is the diagnostic definition of its nature, which could lead to a different therapeutic approach. We describe a case with all the possible implications and differential diagnoses supported by the application of immunohistochemistry and BRAF-V600E molecular detection.     

The impact of the SARS‐CoV‐2 infection,with special reference to the hematological setting

Severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) is a disease known from a few months, caused by a recently arisen virus and, consequently, it is little known. The disease has a benign course in most infected subjects (children and young adults), is often symptomatic in adults over the age of 50 and often serious and life threatening in people with comorbidities and the elderly. The few data published on coronavirus disease‐2019 (COVID‐19) in the blood‐oncology field report a serious clinical presentation, a serious course of the disease, and a high mortality rate, as has also been reported for other cancer contexts. The current strategy for treating patients with SARS‐CoV‐2 includes antivirals that are effective against other viral infections and drugs that can moderate the cytokine storm. There is no specific vaccine and consequently all possible precautions must be taken to prevent SARS‐CoV‐2 infection in the areas of oncology, oncohematology, and bone marrow transplantation. In this reviewer's article, we report the information currently available on SARS‐CoV‐2 infection to help young doctors and hematologists to successfully manage patients with COVID‐19.     

Spontaneous regression of cystic dysplasia of the rete testis in an 18-month-old boy: the key role of ultrasonography

Cystic dysplasia of the rete testis (CDT) is a rare cause of scrotal swelling in children. It is a congenital disorder and it can be associated with other genitourinary abnormalities. At present, there is no clear consensus on treatment. Surgical approach has traditionally been the treatment of choice, while, more recently, conservative approach has been applied, justified by the benign nature of the lesion and after few cases of spontaneous regression have been documented. Ultrasonography, supported by negative tumor markers, plays a key role in the diagnostic work up and during observational follow-up. We report a further case of spontaneous regression of suspected CDT in an 18-month-old boy, who has been followed with clinic and ultrasonographic checks.     

Solitary fibrous tumor of the liver

We report a new case of benign solitary fibrous tumor (SFT) of the liver. A 65‐year‐old man presented to our unit with upper right abdominal discomfort. On examination abdominal distension was present and palpation showed a large firm mass in the right hypochondrium and epigastrium. The patient's past medical history was not significant and laboratory tests were normal. Ultrasonography and computed tomography showed a large tumor, 20 cm in diameter, in the right lobe of the liver. An extended right hepatectomy was performed. The tumor measured 30 × 28 × 14 cm and weighed 4725 g. Microscopic evaluation showed a benign SFT of the liver with tumor cells typically positive for vimentin and CD34. The postoperative course was uneventful, and the patient is alive 30 months after surgery. This is a rare neoplasm of mesenchymal origin that occasionally involves the liver in adult patients. Most SFTs are benign, but some may have malignant histological features and recur locally or metastasize. Because of their rarity, overall experience has not been significant and little has been published concerning this tumor, Including the present one, 28 cases have been reported in the English literature. Surgery is the mainstay of treatment. Little can be said about the benefits of adjuvant radiochemotherapy in these patients. As SFT of the liver is often a benign neoplasm, chemotherapy or radiotherapy should not be necessary, and should be reserved for when resection is incomplete and/or histological examination reveals features of malignancy. Surgeons must be aware of SFT of the liver, and this neoplasm should be included in the differential diagnosis of a single large hepatic mass.     

Risk of Adverse Pregnancy Outcomes in Women with CKD

CKD is increasingly prevalent in pregnancy. In the Torino-Cagliari Observational Study (TOCOS), we assessed whether the risk for adverse pregnancy outcomes is associated with CKD by comparing pregnancy outcomes of 504 pregnancies in women with CKD to outcomes of 836 low-risk pregnancies in women without CKD. The presence of hypertension, proteinuria (>1 g/d), systemic disease, and CKD stage (at referral) were assessed at baseline. The following outcomes were studied: cesarean section, preterm delivery, and early preterm delivery; small for gestational age (SGA); need for neonatal intensive care unit (NICU); new onset of hypertension; new onset/doubling of proteinuria; CKD stage shift; “general” combined outcome (preterm delivery, NICU, SGA); and “severe” combined outcome (early preterm delivery, NICU, SGA). The risk for adverse outcomes increased across stages (for stage 1 versus stages 4–5: “general” combined outcome, 34.1% versus 90.0%; “severe” combined outcome, 21.4% versus 80.0%; P<0.001). In women with stage 1 CKD, preterm delivery was associated with baseline hypertension (odds ratio [OR], 3.42; 95% confidence interval [95% CI], 1.87 to 6.21), systemic disease (OR, 3.13; 95% CI, 1.51 to 6.50), and proteinuria (OR, 3.69; 95% CI, 1.63 to 8.36). However, stage 1 CKD remained associated with adverse pregnancy outcomes (general combined outcome) in women without baseline hypertension, proteinuria, or systemic disease (OR, 1.88; 95% CI, 1.27 to 2.79). The risk of intrauterine death did not differ between patients and controls. Findings from this prospective study suggest a “baseline risk” for adverse pregnancy-related outcomes linked to CKD.