In Europe, Dengue Fever is one of the most frequent imported diseases and also autochthonous cases occurred in areas where the insect vector is present. Here, we describe a child returning from ...Philippines and diagnosed with Dengue Fever, through the information provided by parents about an ongoing outbreak in their municipality. An appropriate clinical management in the hospital was established to monitor the occurrence of complications and to cancel the risk of dengue virus transmission in the acute phase of infection.
In Europe, Dengue Fever is one of the most frequent imported diseases and also autochthonous cases occurred in areas where the insect vector is present. Here, we describe a child returning from ...Philippines and diagnosed with Dengue Fever, through the information provided by parents about an ongoing outbreak in their municipality. An appropriate clinical management in the hospital was established to monitor the occurrence of complications and to cancel the risk of dengue virus transmission in the acute phase of infection.
Pertussis is an acute respiratory illness caused by Bordetella pertussis, showing a re-emergence in developed countries. However, it is probably under-recognised and, as a consequence, its burden is ...underestimated. Here, we report the clinical case of an infant diagnosed with pertussis, despite a regular schedule of vaccination, thanks to a careful clinical evaluation, including personal and family history. In addition to pointing the attention on a precocious diagnosis of atypical cases of pertussis, this case report further raised the issue of modifying and/or implementing the immunisation strategy, considering the ongoing changes of social (eg, immigration) and sanitary (eg, vaccine coverage) background in Italy and all over the Europe.
A male newborn developed a post-natal cytomegalovirus (CMV) infection, arising in the clinical setting of congenital thrombocytopenia, which was diagnosed as being alloimmune. The evidence of active ...CMV infection in an infant showing slow-resolution lower airways infection, persistent neonatal and low platelet volume thrombocytopenia, and diffuse eczema (associated to very high levels of serum immunoglobulin E) led to the diagnosis of Wiskott-Aldrich syndrome (WAS) before the third month of life, despite the presence of several confounding clinical factors. The correct interpretation of all clinical features supported the precocious diagnosis of WAS.
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the
gene. The main phenotypes observed in men with X-ALD are primary adrenal ...insufficiency, adrenomyeloneuropathy, and cerebral ALD (cALD). Cerebral ALD consists of a demyelinating progressive cerebral white matter (WM) disease associated with rapid clinical decline and is fatal if left untreated. Hematopoietic stem cell transplantation is the standard treatment for cALD as it stabilizes WM degeneration when performed early in the disease. For this reason, early diagnosis is crucial, and several countries have already implemented their newborn screening programs (NBS) with the assessment of C26:0-lysophosphatidylcholine (C26:0-LPC) values as screening for X-ALD.
In June 2021, an Italian group in Lombardy launched a pilot study for the implementation of X-ALD in the Italian NBS program. A three-tiered approach was adopted, and it involved quantifying the values of C26:0-LPC and other metabolites in dried blood spots with FIA-MS/MS first, followed by the more specific ultra-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) technique and, finally, the genetic confirmation
focused NGS.
Genetically confirmed patients are set to undergo a follow-up protocol and are periodically evaluated to promptly start a specific treatment if and when the first signs of brain damage appear, as suggested by international guidelines. A specific disease monitoring protocol has been created based on literature data and personal direct experience.
The primary aim of this study was to develop a model able to improve the early diagnosis and subsequent follow-up and timely treatment of X-ALD.
The study was approved by the local ethics committee. The research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest.
Allograft urolithiasis is an uncommon, challenging, and potentially dangerous clinical problem. Treatment of allograft stones includes external shockwave lithotripsy (SWL), flexible ureteroscopy and ...lasertripsy (fURSL), or percutaneous nephrolithotomy (PCNL). A gap in the literature and guidelines exists regarding the treatment of patients in this setting. The aim of this systematic review was to collect preoperative and treatment characteristics and evaluate the outcomes of post-transplant SWL for stone disease.
A systematic search in the literature was performed, including articles up to March 2023. Only original English articles were selected.
Eight articles (81 patients) were included in the review. Patients were mainly male, with a mean age of 41.9 years (±7.07). The mean stone size was 13.18 mm (±2.28 mm). Stones were predominantly located in the kidney (
= 18, 62%). The overall stone-free rate and complication rates were 81% (range: 50-100%) and 17.2% (14/81), respectively, with only one major complication reported. A pre-operative drainage was placed in eleven (13.5%) patients. Five patients (6.71%) required a second treatment for residual fragments.
SWL is a safe and effective option to treat de novo stones after transplantation. Larger studies are needed to better address allograft urolithiasis management.
Renal transplantation is the treatment for end-stage renal disease that offers better quality of life and survival. Among the possible complications that might affect allografts, urolithiasis might ...have severe consequences, causing acute kidney injury (AKI) or septic events in immunocompromised patients. Allograft stones might be treated with percutaneous nephrolithotomy (PCNL). The aim of this Cochrane style review was to assess the safety and efficacy of PCNL in patients with renal transplant.
A comprehensive search in the literature was performed including articles between July 1982 and June 2023, with only English original articles selected for this review.
The final review encompassed nine articles (108 patients). The mean age was 46.4 ± 8.7 years, with a male:female ratio of 54:44. The average time from transplantation to urolithiasis onset was 47.54 ± 23.9 months. Predominant symptoms upon presentation were AKI (32.3%), followed by urinary tract infection and fever (24.2%), and oliguria (12.9%). The mean stone size was 20.1 ± 7.3 mm, with stones located in the calices or pelvis (41%), ureteropelvic junction (23.1%), or proximal ureter (28.2%). PCNL (22F-30F) was more frequently performed than mini-PCNLs (16F-20F) (52.4%
47.6%). Puncture was guided by ultrasound (42.9%), fluoroscopy (14.3%), or both (42.9%). The stone-free rate (SFR) and complication rates were 92.95% (range: 77%-100%) and 5.5%, respectively, with only one major complication reported. Postoperatively, a ureteral stent and nephrostomy were commonly placed in 47%, with four patients needing a second look PCNL. During an average follow-up of 32.5 months, the recurrence rate was 3.7% (4/108), and the mean creatinine level was 1.37 ± 0.28 mg/dL.
PCNL remains a safe and effective option in
allograft urolithiasis, allowing to treat large stones in one-step surgery. A good SFR is achieved with a low risk of minor complications. These patients should be treated in an endourology center in conjunction with the renal or transplant team.
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