Comparative Computed Tomographic Measurements of the Synsacrum in Some Birds / Mediciones Tomográficas Computarizadas Comparativas del Sinsacro en Algunas Aves

SUMMARY: The Synsacrum is constructed of pelvic bones, sacral, lumbar vertebrae and some thoracic vertebrae, and it takes the form of a thin sheet of bone which is curled downwards at the sides. This study is designed to assess the morphometric specialization of the lumbosacral portion of the vertebral section in flying and non-flying winged creatures. Several parameters (ratio of cranial/caudal parts and diameter/length) of the lumbosacral vertebral column were calculated in computed tomography (CT). The ratio of diameter/length of the synsacrum was the narrowest in ostrich while the widest was in pigeon. While the cranial/caudal ratio was the smallest in ostrich and the largest in pigeon. The parameters of penguin were closed to that of pigeon. It is supposed that this ratio is related to the bird locomotion, flying, swimming or/and strolling.

El sinsacro está formado por huesos pélvicos, sacros, vértebras lumbares y algunas vértebras torácicas, y toma la forma de una fina lámina de hueso curvada a los lados hacia abajo. Este estudio está diseñado para evaluar la especialización morfométrica de la porción lumbosacra de la sección vertebral en criaturas aladas voladoras y no voladoras. Se calcularon varios parámetros (relación de partes craneal/caudal y diámetro/longitud) de la columna vertebral lumbosacra en tomografía computarizada (TC). La relación diámetro/longitud del sinsacro fue la más estrecha en avestruz mientras que la más ancha fue en paloma. Mientras que la relación craneal/caudal fue la más pequeña en avestruz y la más grande en la paloma. Los parámetros del pingüino estaban cerrados en relación a los de la paloma. Se supone que esta relación está relacionada con la locomoción de las aves, volando, nadando y/o caminando.

Impact of changing PI-RADS cutoff on prostate cancer detection by MRI cognitive fusion biopsy in biopsy-naïve patients.

BACKGROUND: Multi-parametric magnetic resonance imaging may improve the detection of prostate cancer. The aim of this work is to compare between PI-RADS 3-5 and PI-RADS 4-5 as a threshold for targeted prostatic biopsy. METHODS: This is a prospective clinical study that included 40 biopsy-naïve patients referred for prostate biopsy. Patients underwent prebiopsy multi-parametric (mp-MRI), followed by 12-core transrectal ultrasound-guided systematic biopsy and cognitive MRI/TRUS fusion targeted biopsy from each detected lesion. The primary endpoint was to assess the diagnostic accuracy of the PI-RAD 3-4 versus PI-RADS 4-5 lesion by mpMRI for prostate cancer detection in biopsy-naive men. RESULTS: The overall prostate cancer detection rate and the clinically significant cancer detection rate were 42.5% and 35%, respectively. Targeted biopsies from PI-RADS 3-5 lesions showed a sensitivity of 100%, specificity of 44%, positive predictive value of 51.7%, and negative predictive value of 100%. Restricting targeted biopsies to PI-RADS 4-5 lesions resulted in a decrease in sensitivity and negative predictive value to 73.3% and 86.2%, respectively, while specificity and positive predictive value were increased to 100% for both parameters which was statistically significant (P value < 0.0001 and P value = 0.004, respectively). CONCLUSIONS: Limiting the TBs to PI-RADS 4-5 lesions improves the performance of mp-MRI in the detection of prostate cancer especially aggressive tumors.

Quercetin alleviated multi-walled carbon nanotubes-induced neurotoxicity in mice through inhibition of oxidation, inflammation, and pyroptosis.

Recently, we reported that quercetin (Que) could alleviate immunotoxicity induced by pristine multi-walled carbon nanotubes (MWCNTs) in mice. In the present study, we explored whether Que could also relieve MWCNTs-induced neurotoxicity. MWCNTs injection induced a dose-dependent neurotoxic effect in mice as evidenced by increased oxidative stress, inflammation, and pyroptosis in the brain. However, treatment with Que ameliorated MWCNTs-induced neurotoxicity as revealed by 1) elevated acetylcholinesterase (AChE) activity, 2) reduced lipid peroxidation biomarker malondialdehyde (MDA), 3) improved antioxidant status as indicated by increased levels of reduced glutathione (GSH) and activities of superoxide dismutase (SOD), catalase (CAT), as well as upregulated expression of nuclear factor erythroid 2-related factor 2 (Nrf2) and heme oxygenase-1 (HO-1) genes, 4) decreased levels and expression of inflammatory biomarkers [nitric oxide (NO), interleukin 1 beta (IL1ß), tumor necrosis factor-alpha (TNFα), and nuclear factor kappa B (NF-κB)], 5) downregulated expression of pyroptosis-related genes [nod-like receptor protein inflammasome 3 (Nlrp3) and caspase 1 (Casp1)] but with no effect on the apoptotic Casp3 gene, 6) minimized axonal degeneration and number of microglia in the cerebral medulla, and 7) diminished the number of degenerated neurons in hippocampus and cerebellum. Taken together, Que could ameliorate MWCNT-induced neurotoxicity through antioxidant, anti-inflammatory, and anti-pyroptotic mechanisms.

Quercetin-Ameliorated, Multi-Walled Carbon Nanotubes-Induced Immunotoxic, Inflammatory, and Oxidative Effects in Mice.

The expanding uses of carbon nanotubes (CNTs) in industry and medicine have raised concerns about their toxicity on human and animal health. CNTs, including multi-walled nanotubes (MWCNTs), have been reported to induce immunotoxic, inflammatory, and oxidative effects. Quercetin is a natural flavonoid present in many vegetables and fruits and has immunomodulatory, anti-inflammatory, and antioxidant properties. Herein, we investigated the protective effects of quercetin on pristine MWCNTs-induced immunotoxicity in mice. In comparison with two doses of MWCNTs, high doses [0.5 mg/kg body weight (BW), once intraperitoneally (IP)] caused higher immunotoxic, inflammatory, and oxidative effects than low doses (0.25 mg/kg BW, once IP). Administration of quercetin (30 mg/kg BW, IP for 2 weeks) relieved these deleterious effects as evidenced by (1) reduced spleen weight, (2) increased number of total leukocytes, lymphocytes, and neutrophils, (3) elevated serum levels of IgM, IgG, and IgA, (4) decreased lipid peroxide malondialdehyde levels and increased levels of antioxidant markers reduced glutathione, superoxide dismutase, and catalase in the spleen, (5) decreased concentrations and mRNA levels of inflammatory markers tumor necrosis factor-alpha (TNFα), interleukin 1 beta (IL1ß), and IL6 in the spleen, (6) downregulated expression of immunomodulatory genes transforming growth factor-beta (TGFß), cyclooxygenase2 (COX2), and IL10, and (7) regenerative histological changes as indicated by decreased mononuclear cell infiltration, minimized degenerative changes and restored lymphocytes depletion in the spleen. These results infer that quercetin can ameliorate MWCNTs-induced immunotoxic, inflammatory, and oxidative effects.

Different surgical modalities for management of uveitic glaucoma: 2 year comparative study.

PURPOSE: The aim of this study was to compare outcome of 3 different surgical modalities for management of uveitic glaucoma (UG). METHODS: This is a prospective comparative study, carried out on a cohort of 105 eyes (105 patients) with UG of different aetiologies. Patients were randomly allocated to group A (trabeculectomy), group B (Ahmed glaucoma valve; AGV) or group C (Trans-scleral diode laser cyclophotocoagulation, TDLC). Postoperatively, all patients were followed up for 2 years. Humphrey SITA standard perimetry was done 6, 12 and 24 months. Complete success was defined as IOP ≤ 21 mmHg and relative decrease of ≥20%, without additional glaucoma surgery or antiglaucoma medication, qualified success as IOP ≤ 21 mmHg and additional reduction of ≥20% in IOP, without additional glaucoma surgery, but with topical medications, while failure was considered when IOP was not controlled with topical medications and the patient needed additional surgery, or hypotony for ≥2 months. RESULTS: At first, IOP was significantly lower with AGV and significantly higher with TDLC, with significant drop and percentage drop between the three groups. Starting from the 6th month postoperatively till the end of the 2-year period, there was no statistically significant difference between the 3 groups. There was no significant difference between the three groups, with complete success achieved in 60% with trabeculectomy, 68.6% with AGV and 62.9% with TDLC. There was significant difference for inflammatory cells grading; 65.7% of eyes with trabeculectomy had 2+ cells, 57% with AGV had 0 cells while 45.7% with TDLC had 1+ cells. CONCLUSION: The three surgical modalities had the same IOP-lowering effect on the long run, with complete success rate that is close enough between them, with AGV revealing the least inflammation, which might be the cause of more stable VF with Ahmed's valve proving its superiority to the other 2 techniques for inflammatory glaucoma.

Treatment outcome of doxorubicin versus idarubicin in adult acute myeloid leukemia.

PURPOSE: The present study aimed to compare treatment outcome of idarubicin versus doxorubicin in combination with Ara-C as induction therapy for untreated AML patients. PATIENTS AND METHODS: This retrospective study included 143 patients with de novo AML. All patients received full dose of standard induction therapy (3 + 7) using anthracyclines (doxorubicin or idarubicin) and cytarabine. RESULTS: The studied groups had comparable CR. No significant differences were noted between the studied groups regarding DFS and OS. The DXR group had significantly lower cost in comparison to IDA group. CONCLUSIONS: Idarubicin doesn't have a clear advantage over doxorubicin in treatment of AML.

Resonance Rayleigh scattering technique-using erythrosine B, as novel spectrofluorimetric method for determination of anticancer agent nilotinib: Application for capsules and human plasma.

A exceedingly touchy resonance Rayleigh scattering (RRS) strategy for the assurance of nilotinib (NILO) was introduced. In the pH 3.4 acetate buffer solution, NILO reacted with erythrosine B to produce an ion-association complex, which increased the RRS intensity of the studied system. The enhanced RRS intensity (ΔI) was linearly proportional to the concentration of NILO, the linear range of the method was 0.1-1.0 µg/mL and the detection limit (DL) was 0.025 µg/mL. In like manner, this test was connected to distinguish the concentration of NILO in capsules and human plasma with palatable comes about.

Change in Ophthalmology Practice during COVID-19 Pandemic: Egyptian Perspective.

PURPOSE: To assess the impact of the COVID-19 pandemic on ophthalmology practice in the Cairo metropolitan area. METHODS: This is a cross-sectional observational analytic study among ophthalmologists practicing in different hospitals in the Cairo metropolitan area. The data were collected through a self-administered questionnaire covering general measures taken during practice. RESULTS: The questionnaire was sent to 250 ophthalmologists, with an 82% response rate. Most of the participants were concerned about the economic impact of the pandemic, as there is a 60-80% reduction in the flow of patients with a consequent 80-100% reduction in surgical cases. Most of the participants have access to personal protective equipment, and the safety protocols are followed, especially by the older ophthalmologists. Thus, the surgeons are willing to perform elective surgeries, adhering to strict safety protocols (70.8, 42.6, and 18.8% of the refractive surgeons, corneal surgeons, and retinal surgeons, respectively; p = 0.00). Furthermore, 63.9% of the participants, especially the young ophthalmologists, are willing to see COVID-19 patients and operate on them if needed. CONCLUSIONS: The COVID-19 pandemic could go on for months or even years with a significant impact on ophthalmology practice. Trying to keep a balance between safety and economic burden, the majority of ophthalmologists are willing to see elective patients and urgently operate on a COVID-19 patient, under adherence to the safety protocols.

Impact of COVID-19 Pandemic on Young Ophthalmologists in Cairo University Hospitals.

PURPOSE: To assess the concerns of the residents and young ophthalmologists as well as the change in their practice during the COVID era. DESIGN: This is an cross-sectional study. METHODS: A questionnaire was directed to the young Ophthalmologists of Ophthalmology department in Cairo University hospitals. The primary outcome measures were the effects of COVID-19 pandemic on ophthalmology practice. RESULTS: Seventy-nine young Ophthalmologists responded to the questionnaire, with an age ranging from 24 to 36 years of age of which 57% were females. They all practiced Ophthalmology from less than one year up to 9 years long, with 55.8% of them feeling unlucky starting ophthalmic practice during this era, 7.6% are extremely anxious regarding their psychological concern about the pandemic, and some feel they need psychological assessment especially those with 1-3 years duration of practice (41.2%) (p = .011) , especially females (82.4%, p = .015 ). As for access to PPE, 94.9% are wearing masks in the clinic, but only 8.9% of patients are wearing masks. Before this lockdown, 16.7% of the enrolled candidates attended on line lectures and webinars, but since then, this has significantly surged to 80.5% (p < .001) . CONCLUSION: Due to COVID-19 pandemic, as with everybody else, our young ophthalmologists have been affected on many different levels; psychologically, education and practice levels.

Non-ischemic laparoscopic partial nephrectomy using 1318-nm diode laser for small exophytic renal tumors.

PURPOSE: Warm ischemia (WI) and bleeding constitute the main challenges for surgeons during laparoscopic partial nephrectomy (LPN). Current literature on the use of lasers for cutting and coagulation remains scarce and with small cohorts. We present the largest case series to date of non-ischemic LPN using a diode laser for small exophytic renal tumors. METHODS: We retrospectively evaluated 29 patients with clinically localized exophytic renal tumors who underwent non-ischemic laser-assisted LPN with a 1318-nm wavelength diode laser. We started applying the laser 5 mm beyond the visible tumor margin, 5 mm away from the tissue in a non-contact fashion for coagulation and in direct contact with the parenchymal tissue for cutting. RESULTS: The renal vessels were not clamped, resulting in a WIT (warm ischaemic time) of 0 min, except for one case that required warm ischemia for 12 min and parenchymal sutures. No transfusion was needed, with a mean Hemoglobin drop of 1,4 mg/dl and no postoperative complications. The eGFR did not significantly change by 6 months. Histologically, the majority of lesions (n = 22/29) were renal-cell carcinoma stage pT1a. The majority of malignant lesions (n = 13/22) had a negative margin. However, margin interpretation was difficult in 9 cases due to charring of the tumor base. A mean follow-up of 1.8 years revealed no tumor recurrence. The mean tumor diameter was 19.4 mm. CONCLUSION: The 1318-nm diode laser has the advantages of excellent cutting and sealing properties when applied to small vessels in the renal parenchyma, reducing the need for parenchymal sutures. However, excessive smoke, charring of the surgical margin, and inability to seal large blood vessels are encountered with this technique.

Distally Based Peroneus Brevis Muscle Flap for Large Leg, Ankle, and Foot Defects: Anatomical Finding and Clinical Application.

BACKGROUND: Peroneus brevis muscle flap is a distinguished, distally based safe flap that can be manipulated to cover small defects in the leg and ankle. For large-sized defects, a more distal, larger flap is required either locally or distantly. METHODS: Forty-two distally based peroneus brevis muscle flaps were elevated in 42 patients (30 males and 12 females) with major lower leg, ankle, and proximal foot defects of 6 to 15 cm in length and 6 to 12 cm in width. Anatomical findings were recorded as number, size, and sources of blood supply, entry sites, the lowermost two arterial supplies, internal distribution of blood supply to the muscle, the relationship between external and internal distribution of the blood vessels, the length of the muscle, the entry site of the main artery, and the splitting of the proximal portion of the peroneus brevis muscle to increase its width to sufficiently cover large defects. RESULTS: The anatomical findings suggested that the muscle can be safely extended to cover a large defect in the leg, ankle, or proximal foot. In addition, the longitudinal splitting of the muscle increases its width by up to three times, making it an excellent long-surviving flap to cover a large defect. CONCLUSION: A distally based peroneus brevis muscle flap has a rich blood supply and safely reaches the proximal foot, with a secure splitting to cover large defects in the leg, ankle, and proximal foot.

Trabeculectomy with Ologen versus Mitomycin C in Juvenile Open-Angle Glaucoma: A 1-Year Study.

BACKGROUND: We assessed bleb morphology and the intraocular pressure (IOP)-lowering effect of trabeculectomy with ologen compared to mitomycin C (MMC) in juvenile open-angle glaucoma (JOAG). METHODS: This is a prospective interventional comparative study conducted on 40 eyes (20 patients) with medically uncontrolled JOAG, randomly operating one eye for trabeculectomy with ologen (group A: 20 eyes) and the other with MMC (group B: 20 eyes). IOP measurement, SITA standard perimetry, and spectral domain optical coherence tomography (OCT) for retinal nerve fiber layer (RNFL) thickness were all done pre- and postoperatively. Postoperative blebs were assessed clinically using the Moorfields bleb grading system (MBGS) and anterior segment OCT (AS-OCT). All patients were examined for up to 1 year postoperatively. RESULTS: The mean postoperative IOP was statistically significantly lower than the mean preoperative IOP at each follow-up in each group. At 1 year, the mean postoperative IOP was significantly lower in group A. According to the MBGS, blebs with an ologen implant showed significantly better scoring than those with MMC. AS-OCT showed that ologen-induced blebs had significantly more fluid-filled spaces, cleavage planes, and less fibrosis. CONCLUSION: Ologen resulted in a lower long-term postoperative IOP, a better bleb morphology, and fewer complications. Our results suggest that ologen may be a useful alternative to MMC in JOAG.

Natural Orifice Transluminal Endoscopic Surgery-Assisted Laparoscopic Transvesical Bladder Diverticulectomy: Feasibility Study, Points of Technique, and Case Series with Medium-Term Follow-Up.

OBJECTIVES: To demonstrate the feasibility of our novel natural orifice transluminal endoscopic surgery (NOTES)-assisted approach with medium-term follow-up. PATIENTS AND METHODS: From March 2012, we included all patients who presented to our clinic with symptomatic or complicated retentive bladder diverticula secondary to long-standing infravesical obstruction. After managing the primary cause, we proceeded in all cases to our novel NOTES-assisted approach. We followed up the patients with abdominal ultrasonography at 6 weeks and 12 months postoperatively. Success was determined as subjective relief of the symptoms and objective disappearance of the diverticula in postoperative retrograde cystogram (RGC). RESULTS: Between March 2012 and August 2014, eight diverticula were treated using our new technique. The surgery was uneventful. The mean operative time was 134.25 ± 44.92 minutes. Blood loss was minimal (>50 mL). Retrograde cystography was performed on the 10th postoperative day. The introduction of the needle holder through the urethral natural orifice (NOTES) facilitated a more optimal direction of the needle holder for suturing the bladder wall due to its parallel position in relation to the trigone and posterolateral walls. This renders this step easier compared with suturing the bladder wall through the transvesical laparoscopic ports. One case had a grade IIIa complication according to the Clavien-Dindo classification of surgical complications. The study is limited by the small number of cases. CONCLUSION: Laparoscopic transvesical bladder diverticulectomy is a promising and safe procedure with good outcomes. Using the urethra (NOTES assisted) as an extra access to the bladder facilitates diverticular traction and bladder suturing without the need for extra ports. This technique can also be applied together with the novel T-laparoendoscopic single-site surgery approach.

[An incidental finding of retrocaval extraadrenal pheochromocytoma]. / Das retrocavale extraadrenale Phäochromozytom als Zufallsbefund.

As part of diagnostic work-up of a 71-year-old patient with resistant hypertension, an extraadrenal mass was found. After further imaging and biochemical evaluation an extraadrenal pheochromocytoma was diagnosed and after alpha-receptor blockade was removed via posterior approach laparoscopically in the course. The pheochromocytoma is a rare catecholamine-producing tumor with an incidence of 1-2 per 100 000. In about 1-25 % it is located extraadrenal. Establishing the diagnosis is dependent on the demonstration of significant catecholamine excess. Afterwards imaging with CT or MRI should be performed. After administration of alpha-blockers, the complete surgical resection is the treatment of choice.

Laparoscopic treatment of a spontaneously ruptured kidney (wunderlich syndrome).

Spontaneous, nontraumatic retroperitoneal hemorrhage or Wunderlich syndrome (WS) is a rare but potential life-threatening condition. In most patients a bleeding renal neoplasm is the cause of the retroperitoneal hematoma. The management of this condition includes a conservative approach in the hemodynamically stable patients and active treatment in the unstable patients. Active treatment includes angioembolization or surgery. If angioembolization is not available open surgery is in most cases the preferred approach. We present a patient with a spontaneously ruptured kidney due to a central renal angiomyolipoma, which was treated by laparoscopic nephrectomy.

Open-book Splitting of a Distally Based Peroneus Brevis Muscle Flap to Cover Large Leg and Ankle Defects.

UNLABELLED: Large soft-tissue defects in the lower leg and ankle are a major problem for plastic surgeons. Many local flaps that are either proximally or distally based have been previously described to cover small defects. Larger defects may require a distant flap that is either pedicled or free. The peroneus brevis muscle flap is a well-known distally based safe flap that is used to cover a small defect. METHODS: Ten distally based peroneus brevis muscle flaps were elevated in 10 patients (8 males and 2 females) with major lower third leg and ankle defects that were 6-12 cm in length and 6-10 cm in width, with open-book splitting of the proximal portion of the muscle to cover these large defects. RESULTS: Flap survival was excellent, and partial skin graft loss in two cases healed with dressing. The average flap length was 10 cm, ranging between 6 and 12 cm. The average flap width was 8 cm, ranging between 6 and 10 cm. The donor site also healed uneventful. CONCLUSIONS: Open-book splitting of the distally based peroneus brevis muscle flap is ideally suited for moderate to large defects in the distal third of the lower leg and ankle. This modification of the distally based peroneus brevis muscle flap offers a convincing alternative for covering large defects of up to 12 × 10 cm in the distal leg and ankle region.

Oral antioxidants supplementation for women with unexplained infertility undergoing ICSI/IVF: randomized controlled trial.

OBJECTIVE: Good oocyte quality and maturity are important prerequisites for high fertilization and implantation rates in IVF/ICSI treatment cycles. Reactive oxygen species (ROS) are produced within ovarian follicles, especially during the ovulation process, and increased ROS activity may be a cause of impaired oocyte maturation and higher rate of failure of IVF/ICSI cycles. STUDY DESIGN: RCT evaluating the effect of antioxidant supplementation on ICSI/IVF outcomes. Two hundred and eighteen women with unexplained subfertility undergoing IVF/ICSI were randomized into two groups. The study group (n = 112) received daily oral antioxidants in the form of multivitamins and minerals (amino acid chelated) while the control group (n = 106) did not. Main outcomes were number of mature metaphase II (MII) oocytes and clinical pregnancy rate. RESULTS: There were no significant changes between the groups as regards age, BMI, basal FSH, number of mature (MII) oocytes (12.7 ± 9.4 vs. 13.2 ± 8.6, P = 0.7) and clinical pregnancy rate per woman randomized (38% vs. 34%; [OR = 1.2; 95% CI, 0.70-2.11]. CONCLUSION: Oral antioxidants in the form of a combination of multivitamins and minerals (amino acid chelated) did not improve oocyte quality and pregnancy rates in women with unexplained infertility undergoing IVF/ICSI treatment.

Validation of an adapted arabic version of fibromyalgia syndrome impact questionnaire.

Fibromyalgia (FM) is the most common chronic pain syndrome encountered in medical practice, affecting females more than males, and the estimated prevalence of FM in Egypt is 1.3 %. The aim was to translate and adapt the Fibromyalgia Impact Questionnaire (FIQ) into Arabic and assess reliability and validity. The Arabic version of Fibromyalgia Impact Questionnaire (FIQ-A) was adapted following the forward/backward translation approach. Fifty-one female patients with FM were studied to assess psychometric properties of the FIQ-A. Reliability was analyzed by the correlation coefficient between test and retest. Internal consistency was checked by the Cronbach's alpha coefficient. Construct validity was assessed comparing FIQ-A with Health Assessment Questionnaire (HAQ), Health Assessment Questionnaire of Fibromyalgia (FHAQ), The Medical Outcome Survey Short-Form-36 (SF-36), and the Total Visual Analog Scale (TVAS) for FM symptom, and feasibility was assessed by the time taken in completing the FIQ-A and the proportion of patients completed the questionnaire. Patients studied were 33.2 ± 9.8 years old. Translation was concordant. Adaptation affected 4 sub-items of physical function. Test-retest correlation coefficient was 0.89 for total FIQ-A and Cronbach's alpha was 0.76. Excellent to good statistically significant correlations (p < 0.05) were found between the FIQ-A items and HAQ, FHAQ, and SF-36. The FIQ-A is a reliable, valid for measuring health status and physical function in Arabic-speaking FM patients.

Preliminary study of percutaneous nephrolithotomy on an ambulatory basis.

OBJECTIVE: Preliminary study to assess the feasibility and safety of percutaneous nephrolithotomy (PCNL) as an ambulatory procedure. PATIENTS AND METHODS: Between February 2011 and September 2012, 84 patients with renal calculi fulfilling the inclusion criteria were admitted to the Urology Department of Benha University Hospitals for PCNL. All patients were subjected to a full medical history, clinical, laboratory and radiological examinations. Tubeless PCNLs were done in the supine position, and an antegrade double-J stent was inserted. Operative time and intraoperative complications were recorded. Postoperatively, the hematocrit value, postoperative pain and analgesics, need of blood transfusion, stone-free rate, and length of hospital stay were recorded. Stable patients that could be safely discharged within 24 hours after surgery were considered ambulatory. RESULTS: All cases of tubeless PCNL were successfully done and no cases converted to open surgery. The overall stone-free rate was 91.7%, the mean postoperative pain score measured by the visual analog scale was 4.4 ± 1.2, the mean overall hematocrit deficit was 4.8 ± 2.2% and the mean hospital stay was 33.4 ± 17.5 hours. Ambulatory PCNL was accomplished in 60 out of 84 patients (71.4%) and double-J stents were removed 7-10 days postoperatively. In the non-ambulatory cases, double-J stents were removed after auxillary procedures were done according to each case. CONCLUSION: PCNL can be safely done on an ambulatory basis under strict criteria, but further studies are needed to confirm and expand these findings.

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G > C and g.124G > A while Patients 2 and 3 had a homozygous mutation g.55G > A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome.